36 results on '"Brammah, Susan"'
Search Results
2. Anncaliia algerae Microsporidial Myositis, New South Wales, Australia
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Sutrave, Gaurav, Maundrell, Adam, Keighley, Caitlin, Jennings, Zoe, Brammah, Susan, Wang, Min-Xia, Pamphlett, Roger, Webb, Cameron E., Stark, Damien, Englert, Helen, Gottlieb, David, Bilmon, Ian, and Watts, Matthew R.
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Rheumatoid factor -- Health aspects ,Myositis -- Health aspects ,Medical research -- Health aspects ,Stem cells -- Health aspects ,Organ transplantation -- Health aspects ,Stem cell transplantation -- Health aspects ,Health - Abstract
Anncaliia algerae is a microsporidian parasite that infects insects, including mosquitoes, and was first reported as a cause of fatal myositis in 2004 (1,2). Transmission occurs through contact with spores [...]
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- 2018
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3. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
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Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., and Cooper, Sandra T.
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- 2018
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4. Anncaliia algerae microsporidial myositis
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Watts, Matthew R., Chan, Renee C.F., Cheong, Elaine Y.L., Brammah, Susan, Clezy, Kate R., Tong, Chiwai, Marriott, Deborah, Webb, Cameron E., Chacko, Bobby, Tobias, Vivienne, Outhred, Alexander C., Field, Andrew S., Prowse, Michael V., Bertouch, James V., Stark, Damien, and Reddel, Stephen W.
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Transplantation of organs, tissues, etc. -- Health aspects ,Rheumatoid factor -- Health aspects ,Myositis -- Health aspects ,Antirheumatic agents -- Health aspects ,Muscles -- Health aspects ,Health - Abstract
Microsporidia is a phylum of eukaryotes that contains almost 160 genera (1). Related to fungi, they are obligate intracellular organisms that spread among hosts through a spore stage (1). The [...]
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- 2014
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5. Burns, biofilm and a new appraisal of burn wound sepsis
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Kennedy, Peter, Brammah, Susan, and Wills, Edward
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- 2010
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6. MP89-14 COMPARISON OF ULTRASTRUCTURAL FEATURES IN FEMALE AND MALE BLADDER OUTLET OBSTRUCTION – A POTENTIAL ROLE FOR DIAGNOSTIC DETRUSOR MUSCLE BIOPSY
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Wang, Audrey, Brammah, Susan, Tse, Vincent, and Chan, Lewis
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- 2015
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7. Transurethral Prostate Resection in Patients with Hypocontractile Detrusor—What is the Predictive Value of Ultrastructural Detrusor Changes?
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Blatt, Alison H., Brammah, Susan, Tse, Vincent, and Chan, Lewis
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- 2012
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8. Condylomata acuminata of the urinary bladder with HPV 11
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Karim, Rooshdiya Z., Rose, Barbara R., Brammah, Susan, and Scolyer, Richard A.
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- 2005
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9. Congenital Titinopathy: Comprehensive characterization and pathogenic insights
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Oates, Emily, Jones, Kristi, Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John, Ware, James, Yau, Kyle, Swanson, Lindsay, Whiffin, Nicola, Peduto, Anthony, Bournazos, Adam, Waddell, Leigh, Farrar, Michelle, Sampaio, Hugo, Teoh, Hooi Ling, Lamont, Phillipa, Mowat, David, Fitzsimons, Robin, Corbett, Alastair, Ryan, Monique, O'Grady, Gina, Sandaradura, Sarah, Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie, Nolan, Melinda, Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie, Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason, Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne, Foley, A Reghan, Bharucha-Goebel, Diana, Collins, James, Connolly, Anne, Gilbreath, Heather, Iannaccone, Susan, Castro, Diana, Cummings, Beryl, WEBSTER, Richard, Lazaro, Leila, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho-Ming, Thomas, Neil, Foulds, Nicola, Illingworth, Marjorie, Ellard, Sian, Mclean, Catriona, Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra, Kamsteeg, Erik-Jan, Hoffman, Eric, Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn, Clarke, Nigel, Lek, Monkol, Beggs, Alan, Bönnemann, Carsten, MacArthur, Daniel, Granzier, Henk, Davis, Mark, Laing, Nigel, Foley, A. Reghan, Bharucha‐Goebel, Diana, Luk, Ho‐Ming, Kamsteeg, Erik‐Jan, The University of Sydney, Institute for Neuroscience and Muscle Research, Westmead Hospital [Sydney], Prologue, Hospices Civils de Lyon (HCL), Washington University in St Louis, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Department of Neurology, Rady Children's Hospital San Diego, National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), German Research Centre for Geosciences - Helmholtz-Centre Potsdam (GFZ), Duke University [Durham], Rothamsted Research, Département de médecine de l'enfant et de l'adolescent, University of Copenhagen = Københavns Universitet (KU), Université Libre de Bruxelles [Bruxelles] (ULB), University of Birmingham [Birmingham], Our Lady's hospital for Sick Children, Our Lady's Hospital for Sick Children, Royal Devon and Exeter Foundation Trust, State Neuropathology Service, Department of Pathology, University of Melbourne, The University of Western Australia (UWA), Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE)-Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurology Department, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neuroscience, Uppsala University, Boston Children's Hospital, Washington State University (WSU), University of East London & Glasgow Caledonian University, Centre for Medical Research, Richard, Isabelle, Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Washington University in Saint Louis (WUSTL), Université de Lyon, Le CHCB, Centre Hospitalier de la Côte Basque, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université libre de Bruxelles (ULB), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre Hospitalier de la Côte Basque (CHCB), and École Pratique des Hautes Études (EPHE)
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Cardiomyopathy, Dilated ,Male ,MESH: Connectin ,MESH: Mutation ,[SDV.BIO]Life Sciences [q-bio]/Biotechnology ,education ,Muscle Proteins ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,MESH: Protein Isoforms ,[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,MESH: Phenotype ,Article ,MESH: Muscle Proteins ,Humans ,Protein Isoforms ,Connectin ,Muscle, Skeletal ,MESH: Cardiomyopathy, Dilated ,health care economics and organizations ,MESH: Muscle, Skeletal ,MESH: Humans ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,MESH: Male ,[SDV.BIO] Life Sciences [q-bio]/Biotechnology ,Phenotype ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,Female ,MESH: Female - Abstract
International audience; Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients.Results: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder.Interpretation: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124.
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- 2018
10. Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features
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Berkovic, Samuel F, primary, Oliver, Karen L, additional, Canafoglia, Laura, additional, Krieger, Penina, additional, Damiano, John A, additional, Hildebrand, Michael S, additional, Morbin, Michela, additional, Vears, Danya F, additional, Sofia, Vito, additional, Giuliano, Loretta, additional, Garavaglia, Barbara, additional, Simonati, Alessandro, additional, Santorelli, Filippo M, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Belcastro, Vincenzo, additional, Castellotti, Barbara, additional, Ozkara, Cigdem, additional, Zeman, Adam, additional, Rankin, Julia, additional, Mole, Sara E, additional, Aguglia, Umberto, additional, Farrell, Michael, additional, Rajagopalan, Sulekha, additional, McDougall, Alan, additional, Brammah, Susan, additional, Andermann, Frederick, additional, Andermann, Eva, additional, Dahl, Hans-Henrik M, additional, Franceschetti, Silvana, additional, and Carpenter, Stirling, additional
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- 2018
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11. Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy
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Corbett, Alastair, Brammah, Susan, Wang, Min-Xia, and Pamphlett, Roger
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- 2011
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12. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
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Palmer, Elizabeth E, Kumar, Raman, Gordon, Christopher T, Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R, Lewis, Andrea M, Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E, Cowley, Mark J, Risen, Sarah, Powell-Hamilton, Nina N, Tusi, Jessica E, Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, De Saint Basile, Geneviève, Kivuva, Emma, DDD Study, Scott, Richard H, Rendon, Cesar, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A, Amiel, Jeanne, Field, Michael, and Gecz, Jozef
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Central Nervous System ,DNA-Binding Proteins ,Codon, Nonsense ,Intellectual Disability ,Peripheral Nervous System ,Limb Deformities, Congenital ,Neurocognitive Disorders ,Humans ,High-Throughput Nucleotide Sequencing ,Mandibulofacial Dysostosis ,DDD Study - Published
- 2017
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13. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
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Palmer, Elizabeth E., primary, Kumar, Raman, additional, Gordon, Christopher T., additional, Shaw, Marie, additional, Hubert, Laurence, additional, Carroll, Renee, additional, Rio, Marlène, additional, Murray, Lucinda, additional, Leffler, Melanie, additional, Dudding-Byth, Tracy, additional, Oufadem, Myriam, additional, Lalani, Seema R., additional, Lewis, Andrea M., additional, Xia, Fan, additional, Tam, Allison, additional, Webster, Richard, additional, Brammah, Susan, additional, Filippini, Francesca, additional, Pollard, John, additional, Spies, Judy, additional, Minoche, Andre E., additional, Cowley, Mark J., additional, Risen, Sarah, additional, Powell-Hamilton, Nina N., additional, Tusi, Jessica E., additional, Immken, LaDonna, additional, Nagakura, Honey, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Garrigue, Alexandrine, additional, de Saint Basile, Geneviève, additional, Kivuva, Emma, additional, Scott, Richard H., additional, Rendon, Augusto, additional, Munnich, Arnold, additional, Newman, William, additional, Kerr, Bronwyn, additional, Besmond, Claude, additional, Rosenfeld, Jill A., additional, Amiel, Jeanne, additional, Field, Michael, additional, and Gecz, Jozef, additional
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- 2017
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14. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
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O’Grady, Gina L., primary, Best, Heather A., additional, Sztal, Tamar E., additional, Schartner, Vanessa, additional, Sanjuan-Vazquez, Myriam, additional, Donkervoort, Sandra, additional, Abath Neto, Osorio, additional, Sutton, Roger Bryan, additional, Ilkovski, Biljana, additional, Romero, Norma Beatriz, additional, Stojkovic, Tanya, additional, Dastgir, Jahannaz, additional, Waddell, Leigh B., additional, Boland, Anne, additional, Hu, Ying, additional, Williams, Caitlin, additional, Ruparelia, Avnika A., additional, Maisonobe, Thierry, additional, Peduto, Anthony J., additional, Reddel, Stephen W., additional, Lek, Monkol, additional, Tukiainen, Taru, additional, Cummings, Beryl B., additional, Joshi, Himanshu, additional, Nectoux, Juliette, additional, Brammah, Susan, additional, Deleuze, Jean-François, additional, Ing, Viola Oorschot, additional, Ramm, Georg, additional, Ardicli, Didem, additional, Nowak, Kristen J., additional, Talim, Beril, additional, Topaloglu, Haluk, additional, Laing, Nigel G., additional, North, Kathryn N., additional, MacArthur, Daniel G., additional, Friant, Sylvie, additional, Clarke, Nigel F., additional, Bryson-Richardson, Robert J., additional, Bönnemann, Carsten G., additional, Laporte, Jocelyn, additional, and Cooper, Sandra T., additional
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- 2016
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15. Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications
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Farrar, Michelle A., primary, Teoh, Hooi Ling, additional, Brammah, Susan, additional, Roscioli, Tony, additional, and Cardamone, Michael, additional
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- 2016
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16. Neuronal deficiency ofARV1causes an autosomal recessive epileptic encephalopathy
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Palmer, Elizabeth E, primary, Jarrett, Kelsey E, additional, Sachdev, Rani K, additional, Al Zahrani, Fatema, additional, Hashem, Mais Omar, additional, Ibrahim, Niema, additional, Sampaio, Hugo, additional, Kandula, Tejaswi, additional, Macintosh, Rebecca, additional, Gupta, Rajat, additional, Conlon, Donna M., additional, Billheimer, Jeffrey T., additional, Rader, Daniel J., additional, Funato, Kouichi, additional, Walkey, Christopher J., additional, Lee, Chang Seok, additional, Loo, Christine, additional, Brammah, Susan, additional, Elakis, George, additional, Zhu, Ying, additional, Buckley, Michael, additional, Kirk, Edwin P, additional, Bye, Ann, additional, Alkuraya, Fowzan S., additional, Roscioli, Tony, additional, and Lagor, William R, additional
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- 2016
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17. Anncaliia algerae Microsporidial Myositis, New South Wales, Australia.
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Maundrell, Adam, Keighley, Caitlin, Englert, Helen, Sutrave, Gaurav, Gottlieb, David, Bilmon, Ian, Webb, Cameron E., Watts, Matthew R., Min-Xia Wang, Pamphlett, Roger, Jennings, Zoe, Brammah, Susan, Stark, Damien, and Wang, Min-Xia
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STEM cell transplantation ,PUBLIC health ,MICROSPORIDIA ,SEROLOGY ,ANTHELMINTICS ,FUNGI ,GRAFT versus host disease ,HEMATOPOIETIC stem cell transplantation ,HOMOGRAFTS ,IMMUNOSUPPRESSIVE agents ,MYOSITIS ,ANTIPROTOZOAL agents ,SPORES - Abstract
We describe the successful management of Anncaliia algerae microsporidial myositis in a man with graft versus host disease after hemopoietic stem cell transplantation. We also summarize clinical presentation and management approaches and discuss the importance of research into the acquisition of this infection and strategies for prevention. [ABSTRACT FROM AUTHOR]
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- 2018
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18. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.
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Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., and Cooper, Sandra T.
- Abstract
Abstract: A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibers with striking nemaline rods and hypertrophy of slow fibers that were ultrastructurally normal. A neuromuscular gene panel identified a homozygous essential splice variant in
TNNT3 (chr11:1956150G > A, NM_006757.3:c.681+1G > A).TNNT3 encodes skeletal troponin‐Tfast and is associated with autosomal dominant distal arthrogryposis.TNNT3 has not previously been associated with nemaline myopathy (NM), a rare congenital myopathy linked to defects in proteins associated with thin filament structure and regulation. cDNA studies confirmed pathogenic consequences of the splice variant, eliciting exon‐skipping and intron retention events leading to a frameshift. Western blot showed deficiency of troponin‐Tfast protein with secondary loss of troponin‐Ifast . We establish a homozygous splice variant inTNNT3 as the likely cause of severe congenital NM with distal arthrogryposis, characterized by specific involvement of Type‐2 fibers and deficiency of troponin‐Tfast . [ABSTRACT FROM AUTHOR]- Published
- 2018
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19. Recessive DEScardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
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Riley, Lisa, Waddell, Leigh, Ghaoui, Roula, Evesson, Frances, Cummings, Beryl, Bryen, Samantha J., Joshi, Himanshu, Wang, Min-Xia, Brammah, Susan, Kritharides, Leonard, Corbett, Alastair, MacArthur, Daniel, and Cooper, Sandra
- Abstract
We establish autosomal recessive DESvariants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial exon/intronic fragment, as the likely cause of myopathy with cardiac involvement in female siblings. Both sisters presented in their twenties with slowly progressive limb girdle weakness, severe systolic dysfunction, and progressive, severe respiratory weakness. Desmin is an intermediate filament protein typically associated with autosomal dominant myofibrillar myopathy with cardiac involvement. However a few rare cases of autosomal recessive desminopathy are reported. In this family, a paternal missense p.(Leu190Pro) variant was viewed unlikely to be causative of autosomal dominant desminopathy, as the father and brothers carrying this variant were clinically unaffected. Clinical fit with a DES-related myopathy encouraged closer scrutiny of all DESvariants, identifying a maternal deep intronic variant within intron-7, predicted to create a cryptic splice site, which segregated with disease. RNA sequencing and studies of muscle cDNA confirmed the deep intronic variant caused aberrant splicing of an artificial exon/intronic fragment into maternal DESmRNA transcripts, encoding a premature termination codon, and potently activating nonsense-mediate decay (92% paternal DEStranscripts, 8% maternal). Western blot showed 60–75% reduction in desmin levels, likely comprised only of missense p.(Leu190Pro) desmin. Biopsy showed fibre size variation with increased central nuclei. Electron microscopy showed extensive myofibrillar disarray, duplication of the basal lamina, but no inclusions or aggregates. This study expands the phenotypic spectrum of recessive DEScardio/myopathy, and emphasizes the continuing importance of muscle biopsy for functional genomics pursuit of ‘tricky’ variants in neuromuscular conditions.
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- 2019
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20. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine
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O'Grady, Gina L, primary, Best, Heather A, additional, Oates, Emily C, additional, Kaur, Simranpreet, additional, Charlton, Amanda, additional, Brammah, Susan, additional, Punetha, Jaya, additional, Kesari, Akanchha, additional, North, Kathryn N, additional, Ilkovski, Biljana, additional, Hoffman, Eric P, additional, and Clarke, Nigel F, additional
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- 2014
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21. Anncaliia algeraeMicrosporidial Myositis
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Watts, Matthew R., primary, Chan, Renee C.F., additional, Cheong, Elaine Y.L., additional, Brammah, Susan, additional, Clezy, Kate R., additional, Tong, Chiwai, additional, Marriott, Deborah, additional, Webb, Cameron E., additional, Chacko, Bobby, additional, Tobias, Vivienne, additional, Outhred, Alexander C., additional, Field, Andrew S., additional, Prowse, Michael V., additional, Bertouch, James V., additional, Stark, Damien, additional, and Reddel, Stephen W., additional
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- 2014
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22. Glioma microvesicles carry selectively packaged coding and non-coding RNAs which alter gene expression in recipient cells
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Li, Cheryl CY, primary, Eaton, Sally A, additional, Young, Paul E, additional, Lee, Maggie, additional, Shuttleworth, Rupert, additional, Humphreys, David T, additional, Grau, Georges E, additional, Combes, Valery, additional, Bebawy, Mary, additional, Gong, Joyce, additional, Brammah, Susan, additional, Buckland, Michael E, additional, and Suter, Catherine M, additional
- Published
- 2013
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23. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
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Palmer, Elizabeth E., Jarrett, Kelsey E., Sachdev, Rani K., Al Zahrani, Fatema, Hashem, Mais Omar, Ibrahim, Niema, Sampaio, Hugo, Kandula, Tejaswi, Macintosh, Rebecca, Gupta, Rajat, Conlon, Donna M., Billheimer, Jeffrey T., Rader, Daniel J., Kouichi Funato, Walkey, Christopher J., Chang Seok Lee, Loo, Christine, Brammah, Susan, Elakis, George, and Ying Zhu
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- 2016
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24. 987: Myogenic Basis of Detrusor Overactivity: Correlation of GAP Junctional Protein Expression and Ultrastructural Features in the Overactive Human Detrusor
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Brammah, Susan, primary, Chan, Lewis W., additional, Tse, Vincent W., additional, and Wills, Edward, additional
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- 2007
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25. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
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O'Grady, Gina L, Best, Heather A, Oates, Emily C, Kaur, Simranpreet, Charlton, Amanda, Brammah, Susan, Punetha, Jaya, Kesari, Akanchha, North, Kathryn N, Ilkovski, Biljana, Hoffman, Eric P, and Clarke, Nigel F
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MUSCULAR dystrophy genetics ,NEUROMUSCULAR diseases ,AUTOSOMAL recessive polycystic kidney ,MISSENSE mutation ,LONGITUDINAL ligaments ,THERAPEUTICS - Abstract
Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy with rigid spine revealed homozygous missense variants in ACTA1. Skeletal α-actin expression was preserved in these patients. This report expands the clinical and histological phenotype of ACTA1 disease to include congenital muscular dystrophy with rigid spine and dystrophic features on muscle biopsy. This represents a new class of recessive ACTA1 variants, which do not abolish protein expression. [ABSTRACT FROM AUTHOR]
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- 2015
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26. 1199: An Ultrastructural Study of Detrusor Muscle Junctions in Patients with Poorly Compliant Bladders
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Brammah, Susan, primary, Chan, Lewis, additional, Tse, Vincent, additional, and Wills, Edward, additional
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- 2005
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27. 1203: Ultrastructural Detrusor Changes and Clinical Outcome in Patients with Detrusor Hypocontractility
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Collins, Ruth, primary, Chan, Lewis, additional, Tse, Vincent, additional, Brammah, Susan, additional, and Wills, Edward, additional
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- 2005
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28. Tactile Corpuscle-Like Bodies in Colonic Mucosa
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Wills, E. J., primary, Croker, J., additional, and Brammah, Susan, additional
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- 2003
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29. Electron Microscopy What Izzits Revisited: An Ultrapath VI Quiz
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Wills, E. J., primary, Kirwan, P. D., additional, and Brammah, Susan, additional
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- 1994
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30. Glioma microvesicles carry selectively packaged coding and noncoding RNAs which alter gene expression in recipient cells.
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Y. Li, Cheryl C., Eaton, Sally A., Young, Paul E., Lee, Maggie, Shuttleworth, Rupert, Humphreys, David T., Grau, Georges E., Combes, Valery, Bebawy, Mary, Gong, Joyce, Brammah, Susan, Buckland, Michael E., and Suter, Catherine M.
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- 2013
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31. Inhibition of tetraphenylphosphonium-induced NMR-visible lipid accumulation in human breast cells by chlorpromazine
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Sathasivam, Nalayini, Brammah, Susan, Wright, Lesley C., and Delikatny, Edward J.
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CHLORPROMAZINE , *SEROTONIN antagonists , *HYDROPHOBIC surfaces , *NUCLEAR magnetic resonance - Abstract
The effects of chlorpromazine (CPZ) on the lipid accumulation induced by the cationic lipophilic compound tetraphenylphosphonium chloride (TPP) were examined using proton nuclear magnetic resonance spectroscopy (NMR), lipid extraction and thin layer chromatography (TLC), and electron microscopy (EM). Chlorpromazine at concentrations of 12 or 25 μM significantly reduced the NMR-visible lipid accumulation induced by a 48-h treatment with 6.25 μM TPP in the human breast cell line, HBL-100, without affecting cell viability. TPP caused threefold increases in whole-cell triglyceride levels that were attenuated by the addition of CPZ. Electron micrographs of TPP-treated HBL-100 cells showed that the destruction of mitochondria was accompanied by the accumulation of lipid droplets and myelinoid bodies. The addition of CPZ to TPP-treated cells reduced the occurrence of lipid droplets but not of mitochondrial destruction. Treatment with CPZ, in the presence or absence of TPP, resulted in large cytoplasmic inclusions indicating the inhibition of lysosomal metabolism. The induction and attenuation of NMR-visible lipids in conjunction with concomitant changes in both intracellular lipid droplets and whole-cell triglyceride levels provides evidence that NMR-visible lipids arise from cytoplasmic neutral lipid droplets. The observation that CPZ, a known inhibitor of lysosomal and cytosolic lipid metabolism, attenuates the formation of neutral triglycerides indicates that lysosomal processing may be a major step in the accumulation of NMR-visible lipid in breast cell lines. [Copyright &y& Elsevier]
- Published
- 2003
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32. A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.
- Author
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Williams, Andrew J., Murrell, Melanie, Brammah, Susan, Minchenko, Jim, and Christodoulou, John
- Abstract
When normal human cultured skin fibroblasts were treated with the fluorescent dye rhodamine 6G (R6G), there was a drastic reduction in numbers of intact mitochondria and electron transport chain enzyme activities, despite the fact that mitochondrial DNA (mtDNA) was still present in treated cells. We used this observation to develop a novel system for generating cybrids. When cultured skin fibroblast cells from a patient with the mitochondrial encephalopathy and ragged-red fibers (MERRF) syndrome harboring the A8344G mtDNA mutation and which showed a severe reduction in cytochrome c oxidase activity were treated with R6G and fused to enucleated HeLaCOT cells, the resulting cybrid clones showed recovery of cytochrome c oxidase activity, and were shown to have mtDNA derived solely from the HeLaCOT cell line. R6G has significant advantages over ethidium bromide in removing the mitochondrial elements from cultured cells, and the results reported here demonstrate that this strategy can be used to determine the origin of the genetic defect in patients with electron transport chain abnormalities. [ABSTRACT FROM AUTHOR]
- Published
- 1999
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33. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
- Author
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Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, and Carpenter S
- Subjects
- Adolescent, Adult, Age of Onset, Aged, Brain ultrastructure, Female, Humans, Male, Middle Aged, Mutation, Neuronal Ceroid-Lipofuscinoses diagnostic imaging, Neuronal Ceroid-Lipofuscinoses pathology, Survival Rate, Young Adult, Membrane Proteins genetics, Neuronal Ceroid-Lipofuscinoses diagnosis, Neuronal Ceroid-Lipofuscinoses genetics
- Abstract
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. Mean age of onset was 28 years (range 12-51) with bimodal peaks in teenage and early adult life. The typical presentation was of progressive myoclonus epilepsy with debilitating myoclonic seizures and relatively infrequent tonic-clonic seizures. Patients became wheelchair-bound with a mean 12 years post-onset. Ataxia was the most prominent motor feature. Dementia appeared to be an invariable accompaniment, although it could take a number of years to manifest and occasionally cognitive impairment preceded myoclonic seizures. Patients were usually highly photosensitive on EEG. MRI showed progressive cerebral and cerebellar atrophy. The median survival time was 26 years from disease onset. Ultrastructural examination of the pathology revealed fingerprint profiles as the characteristic inclusions, but they were not reliably seen in tissues other than brain. Curvilinear profiles, which are seen in the late infantile form, were not a feature. Of the 13 unrelated families we observed homozygous CLN6 pathogenic variants in four and compound heterozygous variants in nine. Compared to the variant late infantile form, there was a lower proportion of variants that predicted protein truncation. Certain heterozygous missense variants in the same amino acid position were found in both variant late infantile and Kufs disease. There was a predominance of cases from Italy and surrounding regions; this was partially explained by the discovery of three founder pathogenic variants. Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. The diagnosis of Kufs remains challenging but, with the availability of genetic diagnosis, this will largely supersede the use of diagnostic biopsies, particularly as biopsies of peripheral tissues has unsatisfactory sensitivity and specificity.
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- 2019
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34. Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
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Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, and Laing NG
- Subjects
- Female, Humans, Male, Mutation genetics, Phenotype, Protein Isoforms genetics, Cardiomyopathy, Dilated congenital, Connectin genetics, Muscle Proteins genetics, Muscle, Skeletal pathology
- Abstract
Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder., Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients., Results: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder., Interpretation: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124., (© 2018 American Neurological Association.)
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- 2018
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35. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
- Author
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O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, and Cooper ST
- Subjects
- Amino Acid Sequence, Animals, COS Cells, Cell Nucleus metabolism, Chlorocebus aethiops, Cohort Studies, Creatine Kinase genetics, Creatine Kinase metabolism, Cytoplasm metabolism, Distal Myopathies pathology, ELAV-Like Protein 4 genetics, ELAV-Like Protein 4 metabolism, Female, Flavoproteins metabolism, Gene Deletion, Genome-Wide Association Study, Glutathione Reductase genetics, Glutathione Reductase metabolism, HEK293 Cells, Humans, Male, Muscle, Skeletal pathology, Mutation, Missense, Myopathies, Structural, Congenital pathology, Oxidoreductases metabolism, Pedigree, Protein Conformation, Saccharomyces cerevisiae Proteins genetics, Saccharomyces cerevisiae Proteins metabolism, Zebrafish genetics, Cell Nucleus genetics, Distal Myopathies genetics, Genetic Variation, Myopathies, Structural, Congenital genetics, Oxidoreductases genetics
- Abstract
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated creatine kinase. Distinctive histopathology showed abundant internalized nuclei, myofibrillar disorganization, desmin-positive inclusions, and thickened Z-bands. PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins (FAD-binding) and catalyze pyridine-nucleotide-dependent (NAD/NADH) reduction of thiol residues in other proteins. Complementation experiments in yeast lacking glutathione reductase glr1 show that human PYROXD1 has reductase activity that is strongly impaired by the disease-associated missense mutations. Immunolocalization studies in human muscle and zebrafish myofibers demonstrate that PYROXD1 localizes to the nucleus and to striated sarcomeric compartments. Zebrafish with ryroxD1 knock-down recapitulate features of PYROXD1 myopathy with sarcomeric disorganization, myofibrillar aggregates, and marked swimming defect. We characterize variants in the oxidoreductase PYROXD1 as a cause of early-onset myopathy with distinctive histopathology and introduce altered redox regulation as a primary cause of congenital muscle disease., (Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
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36. Nuclear magnetic resonance-visible lipids induced by cationic lipophilic chemotherapeutic agents are accompanied by increased lipid droplet formation and damaged mitochondria.
- Author
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Delikatny EJ, Cooper WA, Brammah S, Sathasivam N, and Rideout DC
- Subjects
- Breast ultrastructure, Cytoplasm metabolism, Female, Humans, Lysosomes metabolism, Magnetic Resonance Spectroscopy, Microscopy, Electron, Tumor Cells, Cultured, Antineoplastic Agents pharmacology, Breast metabolism, Lipid Metabolism, Mitochondria ultrastructure, Organophosphorus Compounds pharmacology
- Abstract
Proton nuclear magnetic resonance (NMR) spectroscopy, histological lipid staining, and electron microscopy were used to assess the biochemical and structural changes induced by treating the cultured human breast cell line HBL-100 with the cationic lipophilic phosphonium salts p-(triphenylphosphoniummethyl) benzaldehyde chloride (drug A) and [4-(hydrazinocarboxy)-1-butyl] tris-(4-dimethylaminophenyl) phosphonium chloride (drug B). The major biochemical change detected by (1)H NMR in drug-treated cells was a significant time- and concentration-dependent increase in lipid acyl chain resonances arising from mobile lipids. The amount of NMR-visible lipid strongly correlated with morphometric measurements of oil red O-staining lipid detected in the cytoplasm by light microscopy. Ultrastructural investigations revealed substantial damage to mitochondria and the progressive development of lipid droplets accompanied by end-stage autophagic vacuoles, in the form of densely staining myelinoid bodies, after treatment of HBL-100 cells with drug B at the IC(50). No apparent increase in acid phosphatase activity was observed using electron microscopy, indicating that the accumulation of phospholipids in myelinoid bodies may result from substrate inundation of the lysosome, rather than increased lysosomal activity. These results indicate a potential role for lysosomal lipid catabolism in the formation of NMR-visible lipids in models of cytotoxic insult.
- Published
- 2002
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