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8 results on '"Ellerington, Ruth"'

1. AR cooperates with SMAD4 to maintain skeletal muscle homeostasis

Author

Forouhan, Mitra, Lim, Wooi Fang, Zanetti-Domingues, Laura C., Tynan, Christopher J., Roberts, Thomas C., Malik, Bilal, Manzano, Raquel, Speciale, Alfina A., Ellerington, Ruth, Garcia-Guerra, Antonio, Fratta, Pietro, Sorarú, Gianni, Greensmith, Linda, Pennuto, Maria, Wood, Matthew J. A., and Rinaldi, Carlo

Published
2022
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2. A modular RNA delivery system comprising spherical nucleic acids built on endosome-escaping polymeric nanoparticles

Author

Garcia-Guerra, Antonio, primary, Ellerington, Ruth, additional, Gaitzsch, Jens, additional, Bath, Jonathan, additional, Kye, Mahnseok, additional, Varela, Miguel A., additional, Battaglia, Giuseppe, additional, Wood, Matthew J. A., additional, Manzano, Raquel, additional, Rinaldi, Carlo, additional, and Turberfield, Andrew J., additional

Published
2023
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4. AR cooperates with SMAD4 to maintain skeletal muscle homeostasis

Author

Rinaldi, Carlo, primary, Forouhan, Mitra, additional, Lim, Wooi, additional, Zanetti-Domingues, Laura, additional, Tynan, Christopher, additional, Roberts, Thomas, additional, Malik, Bilal, additional, Manzano, Raquel, additional, Speciale, Alfina, additional, Ellerington, Ruth, additional, Garcia-Guerra, Antonio, additional, Fratta, Pietro, additional, Soraru, Gianni, additional, Greensmith, Linda, additional, Pennuto, Maria, additional, and Wood, Matthew, additional

Published
2022
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5. Control of backbone chemistry and chirality boost oligonucleotide splice switching activity

Author

Kandasamy, Pachamuthu, primary, McClorey, Graham, additional, Shimizu, Mamoru, additional, Kothari, Nayantara, additional, Alam, Rowshon, additional, Iwamoto, Naoki, additional, Kumarasamy, Jayakanthan, additional, Bommineni, Gopal R, additional, Bezigian, Adam, additional, Chivatakarn, Onanong, additional, Butler, David C D, additional, Byrne, Michael, additional, Chwalenia, Katarzyna, additional, Davies, Kay E, additional, Desai, Jigar, additional, Shelke, Juili Dilip, additional, Durbin, Ann F, additional, Ellerington, Ruth, additional, Edwards, Ben, additional, Godfrey, Jack, additional, Hoss, Andrew, additional, Liu, Fangjun, additional, Longo, Kenneth, additional, Lu, Genliang, additional, Marappan, Subramanian, additional, Oieni, Jacopo, additional, Paik, Ik-Hyeon, additional, Estabrook, Erin Purcell, additional, Shivalila, Chikdu, additional, Tischbein, Maeve, additional, Kawamoto, Tomomi, additional, Rinaldi, Carlo, additional, Rajão-Saraiva, Joana, additional, Tripathi, Snehlata, additional, Yang, Hailin, additional, Yin, Yuan, additional, Zhao, Xiansi, additional, Zhou, Cong, additional, Zhang, Jason, additional, Apponi, Luciano, additional, Wood, Matthew J A, additional, and Vargeese, Chandra, additional

Published
2022
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6. Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Author

Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo, Research Programs Unit, Medicum, University of Helsinki, Department of Medical and Clinical Genetics, and HUSLAB

Subjects
EXPRESSION, Caenorhabditis elegans disease modelling, CUTIS LAXA, MUTATIONS, lysosomal disease, 3112 Neurosciences, General Engineering, V-ATPASE, 3124 Neurology and psychiatry, epileptic encephalopathy, V-ATPase, organelle acidification, VACUOLAR PROTON PUMP, SUBUNIT, RENAL TUBULAR-ACIDOSIS, H+-ATPASE, CAENORHABDITIS-ELEGANS, CATHEPSIN-D DEFICIENCY
Abstract

Bott et al. here reports that de novo and biallelic variants in ATP6V0A1 gene affect the ability of the V-ATPase complex to translocate protons and acidify the endolysosomal compartment in neurons, causing a severe neurological phenotype ranging from developmental and epileptic encephalopathy to progressive myoclonus epilepsy. The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the membrane of various subcellular organelles, such as endosomes and lysosomes, and plays a critical role in cellular processes ranging from autophagy to protein trafficking and endocytosis. Variants in ATP6V0A1, the brain-enriched isoform in the V0 domain, have been recently associated with developmental delay and epilepsy in four individuals. Here, we identified 17 individuals from 14 unrelated families with both with new and previously characterized variants in this gene, representing the largest cohort to date. Five affected subjects with biallelic variants in this gene presented with a phenotype of early-onset progressive myoclonus epilepsy with ataxia, while 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy. The R740Q mutation, which alone accounts for almost 50% of the mutations identified among our cases, leads to failure of lysosomal hydrolysis by directly impairing acidification of the endolysosomal compartment, causing autophagic dysfunction and severe developmental defect in Caenorhabditis elegans. Altogether, our findings further expand the neurological phenotype associated with variants in this gene and provide a direct link with endolysosomal acidification in the pathophysiology of ATP6V0A1-related conditions.

Published
2021

7. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

Author

Lim, Wooi F., primary, Forouhan, Mitra, additional, Roberts, Thomas C., additional, Dabney, Jesse, additional, Ellerington, Ruth, additional, Speciale, Alfina A., additional, Manzano, Raquel, additional, Lieto, Maria, additional, Sangha, Gavinda, additional, Banerjee, Subhashis, additional, Conceição, Mariana, additional, Cravo, Lara, additional, Biscans, Annabelle, additional, Roux, Loïc, additional, Pourshafie, Naemeh, additional, Grunseich, Christopher, additional, Duguez, Stephanie, additional, Khvorova, Anastasia, additional, Pennuto, Maria, additional, Cortes, Constanza J., additional, La Spada, Albert R., additional, Fischbeck, Kenneth H., additional, Wood, Matthew J.A., additional, and Rinaldi, Carlo, additional

Published
2021
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