345 results on '"Cooper-Knock, Johnathan"'
Search Results
2. Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis
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Harvey, Calum, Weinreich, Marcel, Lee, James A.K., Shaw, Allan C., Ferraiuolo, Laura, Mortiboys, Heather, Zhang, Sai, Hop, Paul J., Zwamborn, Ramona A.J., van Eijk, Kristel, Julian, Thomas H., Moll, Tobias, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Quinn, John P., Pfaff, Abigail L., Kõks, Sulev, Poulton, Joanna, Battle, Stephanie L., Arking, Dan E., Snyder, Michael P., Veldink, Jan H., Kenna, Kevin P., Shaw, Pamela J., and Cooper-Knock, Johnathan
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- 2024
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3. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia
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Human Genome ,Neurodegenerative ,Clinical Research ,Rare Diseases ,Prevention ,ALS ,Neurosciences ,Genetics ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Amyotrophic Lateral Sclerosis ,Brain ,Cholesterol ,Disease Progression ,Female ,Genome-Wide Association Study ,Glutamine ,Humans ,Male ,Mendelian Randomization Analysis ,Microsatellite Repeats ,Mutation ,Neurodegenerative Diseases ,Neurons ,Quantitative Trait Loci ,RNA-Seq ,Risk Factors ,SLALOM Consortium ,PARALS Consortium ,SLAGEN Consortium ,SLAP Consortium ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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- 2021
4. Deconvolution of polygenic risk score in single cells unravels cellular and molecular heterogeneity of complex human diseases
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Zhang, Sai, primary, Shu, Hantao, additional, Zhou, Jingtian, additional, Rubin-Sigler, Jasper, additional, Yang, Xiaoyu, additional, Liu, Yuxi, additional, Cooper-Knock, Johnathan, additional, Monte, Emma, additional, Zhu, Chenchen, additional, Tu, Sharon, additional, Li, Han, additional, Tong, Mingming, additional, Ecker, Joseph, additional, Ichida, Justin, additional, Shen, Yin, additional, Zeng, Jianyang, additional, Tsao, Philip, additional, and Snyder, Michael, additional
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- 2024
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5. Deep learning modeling of rare noncoding genetic variants in human motor neurons definesCCDC146as a therapeutic target for ALS
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Zhang, Sai, primary, Moll, Tobias, additional, Rubin-Sigler, Jasper, additional, Tu, Sharon, additional, Li, Shuya, additional, Yuan, Enming, additional, Liu, Menghui, additional, Butt, Afreen, additional, Harvey, Calum, additional, Gornall, Sarah, additional, Alhalthli, Elham, additional, Shaw, Allan, additional, Souza, Cleide Dos Santos, additional, Ferraiuolo, Laura, additional, Hornstein, Eran, additional, Shelkovnikova, Tatyana, additional, van Dijk, Charlotte H., additional, Timpanaro, Ilia S., additional, Kenna, Kevin P., additional, Zeng, Jianyang, additional, Tsao, Philip S., additional, Shaw, Pamela J., additional, Ichida, Justin K., additional, Cooper-Knock, Johnathan, additional, and Snyder, Michael P., additional
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- 2024
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6. Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
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Eitan, Chen, Siany, Aviad, Barkan, Elad, Olender, Tsviya, van Eijk, Kristel R., Moisse, Matthieu, Farhan, Sali M. K., Danino, Yehuda M., Yanowski, Eran, Marmor-Kollet, Hagai, Rivkin, Natalia, Yacovzada, Nancy Sarah, Hung, Shu-Ting, Cooper-Knock, Johnathan, Yu, Chien-Hsiung, Louis, Cynthia, Masters, Seth L., Kenna, Kevin P., van der Spek, Rick A. A., Sproviero, William, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Jones, Ashley R., Elbaz-Alon, Yael, Cohen, Yahel, Chapnik, Elik, Rothschild, Daphna, Weissbrod, Omer, Beck, Gilad, Ainbinder, Elena, Ben-Dor, Shifra, Werneburg, Sebastian, Schafer, Dorothy P., Brown, Jr, Robert H., Shaw, Pamela J., Van Damme, Philip, van den Berg, Leonard H., Phatnani, Hemali, Segal, Eran, Ichida, Justin K., Al-Chalabi, Ammar, Veldink, Jan H., and Hornstein, Eran
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- 2022
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7. Unbiased metabolome screen links serum urate to risk of Alzheimer's disease
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Şanlı, Beyazıt Abdurrahman, Whittaker, Katherine J., Motsi, Gamuchirai K., Shen, Emery, Julian, Thomas H., and Cooper-Knock, Johnathan
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- 2022
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8. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
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Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J. F. A., Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A. J., van der Spek, Rick A. A., Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R., Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R., Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E., Dobson, Richard, van Es, Michael A., McLaughlin, Russell L., Vourc’h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P., Mora, Jesus S., Shaw, Pamela J., Landers, John E., Glass, Jonathan D., Shaw, Christopher E., Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., and Al-Chalabi, Ammar
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- 2022
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9. Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS.
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Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A., Cooper‐Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, and Ticozzi, Nicola
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GENETIC testing ,CYTOPLASMIC filaments ,WHOLE genome sequencing ,MISSENSE mutation ,GENETIC mutation ,NEMALINE myopathy - Abstract
Objective: Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk. Methods: Genetic data of 11,130 people with ALS and 7,416 controls from the literature and Project MinE were analysed. We performed meta‐analyses of published case–control studies reporting NEFH variants, and variant analysis of NEFH in Project MinE whole‐genome sequencing data. Results: Fixed‐effects meta‐analysis found that rare (MAF <1%) missense variants in the tail domain of NEFH increase ALS risk (OR 4.55, 95% CI 2.13–9.71, p < 0.0001). In Project MinE, ultrarare NEFH variants increased ALS risk (OR 1.37 95% CI 1.14–1.63, p = 0.0007), with rod domain variants (mostly intronic) appearing to drive the association (OR 1.45 95% CI 1.18–1.77, pMadsen–Browning = 0.0007, pSKAT‐O = 0.003). While in the tail domain, ultrarare (MAF <0.1%) pathogenic missense variants were also associated with higher risk of ALS (OR 1.94, 95% CI 0.86–4.37, pMadsen–Browning = 0.039), supporting the meta‐analysis results. Finally, several tail in‐frame deletions were also found to affect disease risk, however, both protective and pathogenic deletions were found in this domain, highlighting an intricate architecture that requires further investigation. Interpretation: We showed that NEFH tail missense and in‐frame deletion variants, and intronic rod variants are risk factors for ALS. However, they are not variants of large effect, and their functional impact needs to be clarified in further studies. Therefore, their inclusion in routine genetic screening panels should be reconsidered. [ABSTRACT FROM AUTHOR]
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- 2024
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10. TDP-43 is a Master Regulator of Paraspeckle Condensation
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Hodgson, Rachel, primary, Huang, Wan-Ping, additional, Kumar, Vedanth, additional, An, Haiyan, additional, Chalakova, Zhaklin, additional, Rayment, Jessica, additional, Ellis, Brittany C.S., additional, Stender, Emil G.P., additional, van Vugt, Joke J.F.A., additional, Sequencing Consortium, Project MinE ALS, additional, Locker, Nicolas, additional, Pitout, Ianthe, additional, Fletcher, Sue, additional, Cooper-Knock, Johnathan, additional, and Shelkovnikova, Tatyana, additional
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- 2024
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11. Characterisation of genotype-phenotype relationships in ALS associated with hexanucleotide repeat expansion of C9orf72
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Cooper-Knock, Johnathan, Shaw, Pamela J., Kirby, Janine, and Rattray, Magnus
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610 - Abstract
The papers selected represent characterisation of amyotrophic lateral sclerosis (ALS) patients belonging to the C9orf72 genetic variant. The general introduction describes ALS more broadly, both clinically and pathologically, including a summary of proposed molecular mechanisms of pathogenesis. It goes on to discuss the discovery that GGGGCC-repeat expansions of C9orf72 represent the most common genetic variant of this disease. The first group of papers in section 3 relate to clinical and pathological characterisation of the C9orf72 genetic variant. This includes genetic screening of cohorts of patients suffering from ALS, frontotemporal dementia (FTD), multiple sclerosis and parkinsonism. The second group of papers in section 4 describes the use of transcriptome analysis, biochemical techniques and immunohistochemistry to study pathogenic mechanisms in C9orf72-ALS. Characterisation of the interactions and behaviour of RNA foci derived from the C9orf72 repeat expansion suggest that these foci sequester proteins important to mRNA splicing. Novel methodology was then used to describe an increase in the splicing error rate in lymphoblastoid cell lines derived from C9orf72-ALS patients, which correlates with disease severity. The final group of papers in section 5 describes the study of genetic modifiers of the C9orf72-disease phenotype. This includes the development and use of a Southern blotting protocol to size the expansion. This led to some interesting suggestions: that patients with intermediate length, but reputedly pathogenic, expansions do not exhibit haploinsufficiency or typical C9orf72-neuropathology. Finally contribution was made to a larger study of the interaction between TMEM106B genotype and C9orf72-disease.
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- 2015
12. The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)
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Boddy, Sarah L., Giovannelli, Ilaria, Sassani, Matilde, Cooper-Knock, Johnathan, Snyder, Michael P., Segal, Eran, Elinav, Eran, Barker, Lynne A., Shaw, Pamela J., and McDermott, Christopher J.
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- 2021
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13. Advances in the genetic classification of amyotrophic lateral sclerosis
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Cooper-Knock, Johnathan, Harvey, Calum, Zhang, Sai, Moll, Tobias, Timpanaro, Ilia Sarah, Kenna, Kevin P., Iacoangeli, Alfredo, and Veldink, Jan H.
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- 2021
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14. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
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Gallagher, Michael D, Suh, Eunran, Grossman, Murray, Elman, Lauren, McCluskey, Leo, Van Swieten, John C, Al-Sarraj, Safa, Neumann, Manuela, Gelpi, Ellen, Ghetti, Bernardino, Rohrer, Jonathan D, Halliday, Glenda, Van Broeckhoven, Christine, Seilhean, Danielle, Shaw, Pamela J, Frosch, Matthew P, Alafuzoff, Irina, Antonell, Anna, Bogdanovic, Nenad, Brooks, William, Cairns, Nigel J, Cooper-Knock, Johnathan, Cotman, Carl, Cras, Patrick, Cruts, Marc, De Deyn, Peter P, DeCarli, Charles, Dobson-Stone, Carol, Engelborghs, Sebastiaan, Fox, Nick, Galasko, Douglas, Gearing, Marla, Gijselinck, Ilse, Grafman, Jordan, Hartikainen, Päivi, Hatanpaa, Kimmo J, Highley, J Robin, Hodges, John, Hulette, Christine, Ince, Paul G, Jin, Lee-Way, Kirby, Janine, Kofler, Julia, Kril, Jillian, Kwok, John BJ, Levey, Allan, Lieberman, Andrew, Llado, Albert, Martin, Jean-Jacques, Masliah, Eliezer, McDermott, Christopher J, McKee, Ann, McLean, Catriona, Mead, Simon, Miller, Carol A, Miller, Josh, Munoz, David G, Murrell, Jill, Paulson, Henry, Piguet, Olivier, Rossor, Martin, Sanchez-Valle, Raquel, Sano, Mary, Schneider, Julie, Silbert, Lisa C, Spina, Salvatore, van der Zee, Julie, Van Langenhove, Tim, Warren, Jason, Wharton, Stephen B, White, Charles L, Woltjer, Randall L, Trojanowski, John Q, Lee, Virginia MY, Van Deerlin, Vivianna, and Chen-Plotkin, Alice S
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Humans ,Amyotrophic Lateral Sclerosis ,Genetic Predisposition to Disease ,Intercellular Signaling Peptides and Proteins ,Proteins ,Membrane Proteins ,Nerve Tissue Proteins ,Cohort Studies ,Age Factors ,Age of Onset ,DNA Repeat Expansion ,Genotype ,Heterozygote ,Polymorphism ,Single Nucleotide ,Alleles ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Female ,Male ,Frontotemporal Lobar Degeneration ,C9orf72 Protein ,Progranulins ,Rare Diseases ,Aging ,Neurosciences ,Alzheimer's Disease Related Dementias (ADRD) ,Brain Disorders ,Neurodegenerative ,Prevention ,Genetics ,Dementia ,Frontotemporal Dementia (FTD) ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Acquired Cognitive Impairment ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,TMEM106B ,C9orf72 ,Frontotemporal dementia ,Frontotemporal lobar degeneration ,Amyotrophic lateral sclerosis ,Genetic modifier ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at TMEM106B influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA-binding protein of 43 kDa (FTLD-TDP). Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here, we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with C9orf72 expansions (n = 14), with the major allele correlated with later age at death (p = 0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with C9orf72 expansions (n = 75), again finding that the major allele associates with later age at death (p = 0.016), as well as later age at onset (p = 0.019). In contrast, TMEM106B genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for GRN mutations or C9orf72 expansions. Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
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- 2014
15. Mendelian Randomization Study With Clinical Follow-Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension.
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Alhathli, Elham, Julian, Thomas, Girach, Zain Ul Abideen, Thompson, A. A. Roger, Rhodes, Christopher, Gräf, Stefan, Errington, Niamh, Wilkins, Martin R., Lawrie, Allan, Wang, Dennis, and Cooper-Knock, Johnathan
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- 2024
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16. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
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- 2018
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17. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- Author
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van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.
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- 2022
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18. Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice
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Kukharsky, Michail S., Ninkina, Natalia N., An, Haiyan, Telezhkin, Vsevolod, Wei, Wenbin, Meritens, Camille Rabesahala de, Cooper-Knock, Johnathan, Nakagawa, Shinichi, Hirose, Tetsuro, Buchman, Vladimir L., and Shelkovnikova, Tatyana A.
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- 2020
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19. A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations
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Allen, Scott P., primary, Al Sultan, Afnan, additional, Kabucho Kibirige, Elaine, additional, Tonkiss, Erin, additional, Hamer, Keaton J., additional, Castelli, Lydia M., additional, Lin, Ya-Hui, additional, Roscoe, Sarah, additional, Stefanidis, Nikolaos, additional, Mead, Richard J., additional, Highley, J. Robin, additional, Cooper-Knock, Johnathan, additional, Hautbergue, Guillaume M., additional, Heath, Paul R., additional, Kirby, Janine, additional, and Shaw, Pamela J., additional
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- 2023
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20. Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing
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Crooks, Lucy, Cooper-Knock, Johnathan, Heath, Paul R., Bouhouche, Ahmed, Elfahime, Mostafa, Azzouz, Mimoun, Bakri, Youssef, Adnaoui, Mohammed, Ibrahimi, Azeddine, Amzazi, Saaïd, and Tazi-Ahnini, Rachid
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- 2020
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21. Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence
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Chapman, Laura, primary, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J, additional
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- 2023
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22. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
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Adey, Brett N., primary, Cooper-Knock, Johnathan, additional, Al Khleifat, Ahmad, additional, Fogh, Isabella, additional, van Damme, Philip, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughlin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Silani, Vincenzo, additional, Ticozzi, Nicola, additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, de Carvalho, Mamede, additional, Pinto, Susana, additional, Mora Pardina, Jesus S., additional, Povedano Panades, Mónica, additional, Andersen, Peter M., additional, Weber, Markus, additional, Başak, Nazli A., additional, Shaw, Christopher E., additional, Shaw, Pamela J., additional, Morrison, Karen E., additional, Landers, John E., additional, Glass, Jonathan D., additional, Vourc’h, Patrick, additional, Dobson, Richard J. B., additional, Breen, Gerome, additional, Al-Chalabi, Ammar, additional, Jones, Ashley R., additional, and Iacoangeli, Alfredo, additional
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- 2023
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23. A cell-penetrant peptide blocking C9ORF72 -repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins
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Castelli, Lydia M., primary, Lin, Ya-Hui, additional, Sanchez-Martinez, Alvaro, additional, Gül, Aytaç, additional, Mohd Imran, Kamallia, additional, Higginbottom, Adrian, additional, Upadhyay, Santosh Kumar, additional, Márkus, Nóra M., additional, Rua Martins, Raquel, additional, Cooper-Knock, Johnathan, additional, Montmasson, Claire, additional, Cohen, Rebecca, additional, Walton, Amy, additional, Bauer, Claudia S., additional, De Vos, Kurt J., additional, Mead, Richard J., additional, Azzouz, Mimoun, additional, Dominguez, Cyril, additional, Ferraiuolo, Laura, additional, Shaw, Pamela J., additional, Whitworth, Alexander J., additional, and Hautbergue, Guillaume M., additional
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- 2023
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24. Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration
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Julian, Thomas H, primary, Cooper-Knock, Johnathan, additional, MacGregor, Stuart, additional, Guo, Hui, additional, Aslam, Tariq, additional, Sanderson, Eleanor, additional, Black, Graeme CM, additional, and Sergouniotis, Panagiotis I, additional
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- 2023
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25. Chapter Genetics of Familial Amyotrophic Lateral Sclerosis
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Kirby, Janine, Goodall, Emily F., Bury, Joanna J., Cooper-Knock, Johnathan, and Shaw, Pamela J.
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Technology, engineering, agriculture ,bic Book Industry Communication::T Technology, engineering, agriculture::TJ Electronics & communications engineering::TJF Electronics engineering::TJFC Circuits & components - Abstract
Electronics engineering
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- 2012
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26. Chapter Insights Arising from Gene Expression Profiling in Amyotrophic Lateral Sclerosis
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Goodall, Emily F., Cooper-Knock, Johnathan, Kirby, Janine, Bury, Joanna J., Shaw, Pamela J., and Ferraiuolo, Laura
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Medicine ,bic Book Industry Communication::M Medicine::MB Medicine: general issues::MBN Public health & preventive medicine::MBNS Epidemiology & medical statistics - Abstract
Public health & preventive medicine
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- 2012
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27. Author response: Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration
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Julian, Thomas H, primary, Cooper-Knock, Johnathan, additional, MacGregor, Stuart, additional, Guo, Hui, additional, Aslam, Tariq, additional, Sanderson, Eleanor, additional, Black, Graeme CM, additional, and Sergouniotis, Panagiotis I, additional
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- 2022
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28. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
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Al Khleifat, Ahmad, primary, Iacoangeli, Alfredo, additional, Jones, Ashley R., additional, van Vugt, Joke J. F. A., additional, Moisse, Matthieu, additional, Shatunov, Aleksey, additional, Zwamborn, Ramona A. J., additional, van der Spek, Rick A. A., additional, Cooper-Knock, Johnathan, additional, Topp, Simon, additional, van Rheenen, Wouter, additional, Kenna, Brendan, additional, Van Eijk, Kristel R., additional, Kenna, Kevin, additional, Byrne, Ross, additional, López, Victoria, additional, Opie-Martin, Sarah, additional, Vural, Atay, additional, Campos, Yolanda, additional, Weber, Markus, additional, Smith, Bradley, additional, Fogh, Isabella, additional, Silani, Vincenzo, additional, Morrison, Karen E., additional, Dobson, Richard, additional, van Es, Michael A., additional, McLaughlin, Russell L., additional, Vourc’h, Patrick, additional, Chio, Adriano, additional, Corcia, Philippe, additional, de Carvalho, Mamede, additional, Gotkine, Marc, additional, Panades, Monica Povedano, additional, Mora, Jesus S., additional, Shaw, Pamela J., additional, Landers, John E., additional, Glass, Jonathan D., additional, Shaw, Christopher E., additional, Basak, Nazli, additional, Hardiman, Orla, additional, Robberecht, Wim, additional, Van Damme, Philip, additional, van den Berg, Leonard H., additional, Veldink, Jan H., additional, and Al-Chalabi, Ammar, additional
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- 2022
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29. Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study
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Julian, Thomas H, primary, Girach, Zain, additional, Sanderson, Eleanor, additional, Guo, Hui, additional, Yu, Jonathan, additional, Cooper-Knock, Johnathan, additional, Black, Graeme C., additional, and Sergouniotis, Panagiotis I, additional
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- 2022
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30. Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication
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Moll, Tobias, primary, Odon, Valerie, additional, Harvey, Calum, additional, Collins, Mark O, additional, Peden, Andrew, additional, Franklin, John, additional, Graves, Emily, additional, Marshall, Jack NG, additional, dos Santos Souza, Cleide, additional, Zhang, Sai, additional, Castelli, Lydia, additional, Hautbergue, Guillaume, additional, Azzouz, Mimoun, additional, Gordon, David, additional, Krogan, Nevan, additional, Ferraiuolo, Laura, additional, Snyder, Michael P, additional, Shaw, Pamela J, additional, Rehwinkel, Jan, additional, and Cooper-Knock, Johnathan, additional
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- 2022
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31. Physical Activity as a Risk Factor for Amyotrophic Lateral Sclerosis.
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Shaw, Pamela J. and Cooper-Knock, Johnathan
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- 2024
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32. Clinical testing panels for ALS: global distribution, consistency, and challenges
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Dilliott, Allison A., primary, Al Nasser, Ahmad, additional, Elnageeb, Marwa, additional, Fifita, Jennifer, additional, Henden, Lyndal, additional, Keseler, Ingrid M., additional, Lenz, Steven, additional, Marriott, Heather, additional, McCann, Emily, additional, Mesaros, Maysen, additional, Opie-Martin, Sarah, additional, Owens, Emma, additional, Palus, Brooke, additional, Ross, Justyne, additional, Wang, Zhanjun, additional, White, Hannah, additional, Al-Chalabi, Ammar, additional, Andersen, Peter M., additional, Benatar, Michael, additional, Blair, Ian, additional, Cooper-Knock, Johnathan, additional, Drury, Luke, additional, Harrington, Elizabeth, additional, Heckmann, Jeannine, additional, Landers, John, additional, Moreno, Cristiane, additional, Nel, Melissa, additional, Rampersaud, Evadnie, additional, Roggenbuck, Jennifer, additional, Rouleau, Guy, additional, Traynor, Bryan, additional, van Blitterswijk, Marka, additional, van Rheenen, Wouter, additional, Veldink, Jan, additional, Weishaupt, Jochen, additional, Harms, Matthew B., additional, and Farhan, Sali M.K., additional
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- 2022
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33. Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration
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Julian, Thomas H, primary, Cooper-Knock, Johnathan, additional, MacGregor, Stuart, additional, Guo, Hui, additional, Aslam, Tariq, additional, Sanderson, Eleanor, additional, Black, Graeme C, additional, and Sergouniotis, Panagiotis I, additional
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- 2022
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34. Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity
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Zhang, Sai, primary, Cooper-Knock, Johnathan, additional, Weimer, Annika K., additional, Shi, Minyi, additional, Kozhaya, Lina, additional, Unutmaz, Derya, additional, Harvey, Calum, additional, Julian, Thomas H., additional, Furini, Simone, additional, Frullanti, Elisa, additional, Fava, Francesca, additional, Renieri, Alessandra, additional, Gao, Peng, additional, Shen, Xiaotao, additional, Timpanaro, Ilia Sarah, additional, Kenna, Kevin P., additional, Baillie, J. Kenneth, additional, Davis, Mark M., additional, Tsao, Philip S., additional, and Snyder, Michael P., additional
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- 2022
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35. AtypicalTDP‐43 protein expression in anALSpedigree carrying a p.Y374Xtruncation mutation inTARDBP
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Cooper‐Knock, Johnathan, primary, Julian, Thomas H., additional, Feneberg, Emily, additional, Highley, J. Robin, additional, Sidra, Maurice, additional, Turner, Martin R., additional, Talbot, Kevin, additional, Ansorge, Olaf, additional, Allen, Scott P., additional, Moll, Tobias, additional, Shelkovnikova, Tatyana, additional, Castelli, Lydia, additional, Hautbergue, Guillaume M., additional, Hewitt, Christopher, additional, Kirby, Janine, additional, Wharton, Stephen B., additional, Mead, Richard J., additional, and Shaw, Pamela J., additional
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- 2022
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36. GLT8D1 mutations cause amyotrophic lateral sclerosis via disruption of neurotrophin signalling within membrane lipid rafts
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Moll, Tobias, primary, Graves, Emily, additional, Urbanek, Agnieszka, additional, Soni, Nikita, additional, Ranganathan, Ramya, additional, Higginbottom, Adrian, additional, Wang, Shanshan, additional, Head, Brian, additional, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J, additional
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- 2022
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37. Concurrent sodium channel myotonia and amyotrophic lateral sclerosis supports shared pathogenesis
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Franklin, John, primary, Cooper-Knock, Johnathan, additional, Baheerathan, Aravindhan, additional, Moll, Tobias, additional, Heverin, Mark, additional, Hardiman, Orla, additional, Mannikko, Roope, additional, Shaw, Pamela, additional, and Hanna, Michael, additional
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- 2022
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38. C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten
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Stopford, Matthew J., Higginbottom, Adrian, Hautbergue, Guillaume M., Cooper-Knock, Johnathan, Mulcahy, Padraig J., De Vos, Kurt J., Renton, Alan E., Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J., Azzouz, Mimoun, Heath, Paul R., Kirby, Janine, and Shaw, Pamela J.
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- 2017
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39. Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
- Author
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Cooper‐Knock, Johnathan, Julian, Thomas H., Feneberg, Emily, Highley, J. Robin, Sidra, Maurice, Turner, Martin R., Talbot, Kevin, Ansorge, Olaf, Allen, Scott P., Moll, Tobias, Shelkovnikova, Tatyana, Castelli, Lydia, Hautbergue, Guillaume M., Hewitt, Christopher, Kirby, Janine, Wharton, Stephen B., Mead, Richard J., and Shaw, Pamela J.
- Subjects
- *
AMYOTROPHIC lateral sclerosis , *PROTEIN expression , *MOTOR cortex , *NONSENSE mutation , *MOTOR neurons , *FIBROBLASTS , *GENEALOGY , *MASS spectrometry - Abstract
We describe an autosomal dominant, multi‐generational, amyotrophic lateral sclerosis (ALS) pedigree in which disease co‐segregates with a heterozygous p.Y374X nonsense mutation within TDP‐43. Mislocalization of TDP‐43 and formation of insoluble TDP‐43‐positive neuronal cytoplasmic inclusions is the hallmark pathology in >95% of ALS patients. Neuropathological examination of the single case for which CNS tissue was available indicated typical TDP‐43 pathology within lower motor neurons, but classical TDP‐43‐positive inclusions were absent from motor cortex. The mutated allele is transcribed and translated in patient fibroblasts and motor cortex tissue, but overall TDP‐43 protein expression is reduced compared to wild‐type controls. Despite absence of TDP‐43‐positive inclusions we confirmed deficient TDP‐43 splicing function within motor cortex tissue. Furthermore, urea fractionation and mass spectrometry of motor cortex tissue carrying the mutation revealed atypical TDP‐43 protein species but not typical C‐terminal fragments. We conclude that the p.Y374X mutation underpins a monogenic, fully penetrant form of ALS. Reduced expression of TDP‐43 combined with atypical TDP‐43 protein species and absent C‐terminal fragments extends the molecular phenotypes associated with TDP‐43 mutations and with ALS more broadly. Future work will need to include the findings from this pedigree in dissecting the mechanisms of TDP‐43‐mediated toxicity. [ABSTRACT FROM AUTHOR]
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- 2023
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40. Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
- Author
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Moll, Tobias, Odon, Valerie, Harvey, Calum, Collins, Mark O., Peden, Andrew, Franklin, John, Graves, Emily, Marshall, Jack N. G., dos Santos Souza, Cleide, Sai Zhang, Castelli, Lydia, Hautbergue, Guillaume, Azzouz, Mimoun, Gordon, David, Krogan, Nevan, Ferraiuolo, Laura, Snyder, Michael P., Shaw, Pamela J., Rehwinkel, Jan, and Cooper-Knock, Johnathan
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- 2023
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41. Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
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Cooper-Knock, Johnathan, Higginbottom, Adrian, Stopford, Matthew J., Highley, J. Robin, Ince, Paul G., Wharton, Stephen B., Pickering-Brown, Stuart, Kirby, Janine, Hautbergue, Guillaume M., and Shaw, Pamela J.
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- 2015
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42. The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
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Cooper-Knock, Johnathan, Kirby, Janine, Highley, Robin, and Shaw, Pamela J.
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- 2015
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43. Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis
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Boddy, Sarah, primary, Islam, Mahjabin, additional, Moll, Tobias, additional, Kurz, Julian, additional, Burrows, David, additional, McGown, Alexander, additional, Bhargava, Anushka, additional, Julian, Thomas H, additional, Harvey, Calum, additional, Marshall, Jack NG, additional, Hall, Benjamin PC, additional, Allen, Scott P, additional, Kenna, Kevin P, additional, Sanderson, Eleanor, additional, Zhang, Sai, additional, Ramesh, Tennore, additional, Snyder, Michael P, additional, Shaw, Pamela J, additional, McDermott, Christopher, additional, and Cooper-Knock, Johnathan, additional
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- 2022
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44. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
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Zhang, Sai, primary, Cooper-Knock, Johnathan, additional, Weimer, Annika K., additional, Shi, Minyi, additional, Moll, Tobias, additional, Marshall, Jack N.G., additional, Harvey, Calum, additional, Nezhad, Helia Ghahremani, additional, Franklin, John, additional, Souza, Cleide dos Santos, additional, Ning, Ke, additional, Wang, Cheng, additional, Li, Jingjing, additional, Dilliott, Allison A., additional, Farhan, Sali, additional, Elhaik, Eran, additional, Pasniceanu, Iris, additional, Livesey, Matthew R., additional, Eitan, Chen, additional, Hornstein, Eran, additional, Kenna, Kevin P., additional, Veldink, Jan H., additional, Ferraiuolo, Laura, additional, Shaw, Pamela J., additional, Snyder, Michael P., additional, Blair, Ian, additional, Wray, Naomi R., additional, Kiernan, Matthew, additional, Mitne Neto, Miguel, additional, Chio, Adriano, additional, Cauchi, Ruben, additional, Robberecht, Wim, additional, van Damme, Philip, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, van den Berg, Leonard H., additional, de Carvalho, Mamede, additional, Mora Pardina, Jesus S., additional, Povedano, Monica, additional, Andersen, Peter, additional, Weber, Markus, additional, Başak, Nazli A., additional, Al-Chalabi, Ammar, additional, Shaw, Chris, additional, Morrison, Karen E., additional, Landers, John E., additional, and Glass, Jonathan D., additional
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- 2022
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45. Unbiased Metabolome Screen Links Serum Urate to Risk of Alzheimer's Disease
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Şanlı, Beyazıt Abdurrahman, primary, Katherine, Whittaker, additional, Motsi, Gamuchirai K., additional, Shen, Emery, additional, Julian, Thomas H., additional, and Cooper-Knock, Johnathan, additional
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- 2022
- Full Text
- View/download PDF
46. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Needham, Merrilee, Ceroni, Mauro, Simoncini, Costanza, Gagliardi, Stella, Corrado, Lucia, Garton, Fleur C., Mazzini, Letizia, Westeneng, Henk Jan, Ross, Jay P., Valluzzi, Francesco, Aguggia, Marco, Raggi, Flavia, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Ngo, Shyuan T., Corcia, Philippe, Olsen, Catherine M., Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, D’alfonso, Sandra, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano, Monica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Benyamin, Beben, Veldink, Jan H, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, Ferrarese, C, Neurology, ANS - Neuroinfection & -inflammation, APH - Methodology, APH - Quality of Care, EURO-NMD, Internal Medicine, Epidemiology, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), van Rheenen, W., Van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H.J., Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H.J., Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc'h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Kraft, J.,Whiteman, David C., Olsen, Catherine M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Neto, M.M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hubner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A, Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N, van Es, M.A., Pasterkamp, R.J., Fan, D.S., Garton, F.C., McRae, A.F., Smith, G.D., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E.L., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
- Subjects
Male ,Genetics and heredity ,amyotrophic lateral sclerosis ,Neurologi ,Glutamine ,Medizin ,Genome-wide association study ,Disease ,SUSCEPTIBILITY ,Genome-wide association studies ,DISEASE ,Genètica mèdica ,0302 clinical medicine ,neurodegenerative disease ,genome-wide association study ,ALS, gene ,autophagy ,Risk Factors ,amyotrophic lateral sclerosi ,RNA-Seq ,Amyotrophic lateral sclerosis ,disease-modifying therapies ,blood [Cholesterol] ,Genetics ,Genetics & Heredity ,Neurons ,0303 health sciences ,Medical genetics ,Neurodegenerative diseases ,Genome-wide association ,Mendelian randomization ,Frontotemporal dementia ,Hexanucleotide repeat ,Mutant SOD1 ,Metaanalysis ,ALS ,Susceptibility ,Identification ,Brain ,Amyotrophic Lateral Sclerosis ,Cholesterol ,Disease Progression ,Female ,Humans ,Mendelian Randomization Analysis ,Microsatellite Repeats ,Neurodegenerative Diseases ,Quantitative Trait Loci ,Genome-Wide Association Study ,Mutation ,MUTANT SOD1 ,genetics [Amyotrophic Lateral Sclerosis] ,medicine.anatomical_structure ,Neurology ,risk factor ,metabolism [Neurons] ,MENDELIAN RANDOMIZATION ,nerve cell ,Life Sciences & Biomedicine ,quantitative trait locu ,Biology ,03 medical and health sciences ,Amyotrophic lateral sclerosis -- Diagnosis ,blood ,ddc:570 ,medicine ,degenerative disease ,Motor neuron disease ,human ,Genomes ,GENOME-WIDE ASSOCIATION ,gene ,Gene ,metabolism [Glutamine] ,METAANALYSIS ,030304 developmental biology ,Mendelian randomization analysi ,Science & Technology ,HEXANUCLEOTIDE REPEAT ,meta analysi ,IDENTIFICATION ,metabolism [Amyotrophic Lateral Sclerosis] ,FRONTOTEMPORAL DEMENTIA ,medicine.disease ,metabolism [Brain] ,genetics [Neurodegenerative Diseases] ,Expression quantitative trait loci ,disease exacerbation ,Neuron ,gemone ,genetic ,Vesicle-mediated transport ,metabolism ,Nervous system -- Degeneration ,Esclerosi lateral amiotròfica ,030217 neurology & neurosurgery - Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance
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- 2021
47. Membrane lipid raft homeostasis is directly linked to neurodegeneration
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Moll, Tobias, additional, Marshall, Jack N.G., additional, Soni, Nikita, additional, Zhang, Sai, additional, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J., additional
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- 2021
- Full Text
- View/download PDF
48. A review of Mendelian randomization in amyotrophic lateral sclerosis
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Julian, Thomas H, primary, Boddy, Sarah, additional, Islam, Mahjabin, additional, Kurz, Julian, additional, Whittaker, Katherine J, additional, Moll, Tobias, additional, Harvey, Calum, additional, Zhang, Sai, additional, Snyder, Michael P, additional, McDermott, Christopher, additional, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J, additional
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- 2021
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49. Implications of confirmed de novo pathogenic SOD1 mutations
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Cooper-Knock, Johnathan, primary
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- 2021
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50. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
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Cooper-Knock, Johnathan, Shaw, Pamela J., and Kirby, Janine
- Published
- 2014
- Full Text
- View/download PDF
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