Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Year: 2013
Type: article
Study design: Observational Study
Authors: Vandana A. Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J. Todd, Lindsay C. Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F. Clarke, Basil T. Darras, Michelle A. Farrar, Amal Hashem, Nicholas D. Manton, Francesco Muntoni, Kathryn N. North, Sarah A. Sandaradura, Ichizo Nishino, Yukiko K. Hayashi, Caroline A. Sewry, Elizabeth M. Thompson, Kyle S. Yau, Catherine A. Brownstein, Timothy W. Yu, Richard J.N. Allcock, Mark R. Davis, Carina Wallgren-Pettersson, Naomichi Matsumoto, Fowzan S. Alkuraya, Nigel G. Laing, Alan H. Beggs
Institutions: Boston Children's Hospital, Harvard University, Manton Center for Orphan Disease Research, The University of Western Australia, Harry Perkins Institute of Medical Research, King Faisal Specialist Hospital & Research Centre, Yokohama City University, The University of Sydney, Children's Hospital at Westmead, Sydney Children's Hospital, South Australia Pathology, Women's and Children's Hospital, Great Ormond Street Hospital, Royal Children's Hospital, Murdoch Children's Research Institute, National Center of Neurology and Psychiatry, National Institute of Neuroscience, The University of Adelaide, Royal Perth Hospital, University of Helsinki, Folkhälsans Forskningscentrum
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Funders: Muscular Dystrophy Association, Rosetrees Trust, Great Ormond Street Hospital Charity, National Institutes of Health, Medical Research Council, National Health and Medical Research Council, Japan Society for the Promotion of Science, National Heart, Lung, and Blood Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: MICA: MRC Centre for Neuromuscular Diseases, Roles of RNA helicase and ribosomal biogenesis in normal and diseased muscle, Genes and Therapies for Centronuclear Myopathies, G4844148289, Neuromuscular diseases: finding the genes and working out how they cause weakness, G7254276453, Analysis of chromosomal structural abnormalities by next generation sequencing, Intellectual and Developmental Disablities Research Center, Nigel G Laing, NH&MRC Principal Research Fellowship: neurogenetics – gene discovery, pathobiology, novel therapeutics, novel diagnostics and translation., Viral therapy for muscle actin disease and finding new muscle disease genes and mechanisms
OpenAlex ID: W1973202003