HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Autor: Dofash LNH; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia., Miles LB; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia., Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan., Rivas E; Department of Pathology, Hospital Universitario Virgen del Rocío Sevilla  41013, Spain., Calcinotto V; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia., Oveissi S; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia., Serrano RJ; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia., Templin R; Ramaciotti Centre for Cryo Electron Microscopy, Monash University, Clayton, VIC 3800, Australia., Ramm G; Ramaciotti Centre for Cryo Electron Microscopy, Monash University, Clayton, VIC 3800, Australia., Rodger A; School of Natural Sciences, Macquarie University, Sydney, NSW 2113, Australia., Haywood J; Centre for Crop and Disease Management, School of Molecular and Life Sciences, Curtin University, Bentley, Perth, WA 6102, Australia., Ingley E; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia., Clayton JS; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia., Taylor RL; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia., Folland CL; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia., Groth D; Curtin Medical School, Curtin University; Curtin Health Innovation Research Institute, Curtin University, Bentley, Perth, WA 6102, Australia., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3010, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3010, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Gorokhova S; Marseille Medical Genetics Université, INSERM, U 1251, Aix-Marseille Université, Marseille 13005, France.; Department of Medical Genetics, Hôpital Timone Enfants, APHM, Marseille 13385, France., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, NIH, Bethesda, MD 20892, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, NIH, Bethesda, MD 20892, USA., Sud M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., VanNoy GE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Mangilog BE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Pais L; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Center for Mendelian Genomics, Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, MA 02115, USA., Madruga-Garrido M; Hospital Viamed Santa Ángela De la Cruz, Sevilla 41014, Spain., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa 16148, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa 16148, Italy.; Child Neuropsichiatry Unit, IRCCS Istituto Giannina Gaslini; Genoa 16147, Italy., Baratto S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy., Traverso M; Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Paris 75014, France.; Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil 94000, France., Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa 16148, Italy.; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa 16148, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Paradas C; Department of Neurology, Neuromuscular Unit and Instituto de Biomedicina de Sevilla/CSIC, Hospital Universitario Virgen del Rocío, Sevilla 41013, Spain.; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla 41092, Spain., Ogata K; Department of Neurology, National Hospital Organization Higashisaitama National Hospital, Hasuda, Saitama 349-0196, Japan., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan., Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia., Cabrera-Serrano M; Department of Neurology, Neuromuscular Unit and Instituto de Biomedicina de Sevilla/CSIC, Hospital Universitario Virgen del Rocío, Sevilla 41013, Spain.; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla 41092, Spain., Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Nov 12. Date of Electronic Publication: 2024 Nov 12.

Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities.

Autor: Serrano RJ; School of Biological Sciences, Monash University, Melbourne 3800, Australia., Oorschot V; Monash Ramaciotti Centre for Cryo-Electron Microscopy, Monash University, Melbourne 3800, Australia., Palipana D; School of Biological Sciences, Monash University, Melbourne 3800, Australia., Calcinotto V; School of Biological Sciences, Monash University, Melbourne 3800, Australia., Sonntag C; School of Biological Sciences, Monash University, Melbourne 3800, Australia., Ramm G; Monash Ramaciotti Centre for Cryo-Electron Microscopy, Monash University, Melbourne 3800, Australia.; Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Melbourne 3800, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne 3800, Australia.

Publikováno v: Brain communications [Brain Commun] 2023 Nov 20; Vol. 5 (6), pp. fcad317. Date of Electronic Publication: 2023 Nov 20 (Print Publication: 2023).

Metformin rescues muscle function in BAG3 myofibrillar myopathy models.

Autor: Ruparelia AA; School of Biological Sciences, Monash University, Melbourne, Australia., McKaige EA; School of Biological Sciences, Monash University, Melbourne, Australia., Williams C; School of Biological Sciences, Monash University, Melbourne, Australia., Schulze KE; Monash Micro Imaging, Monash University, Melbourne, Australia., Fuchs M; Centre de Recherche Sur le Cancer de l'Université Laval, Ville de Québec, Canada.; Oncologie, Centre de Recherche du Centre Hospitalier Universitaire (CHU) de Québec-Université Laval, Ville de Québec, Canada., Oorschot V; Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia., Lacene E; Institut de Myologie, Laboratoire de Pathologie Risler, APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Paris, France., Meregalli M; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, Università Degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Centro Dino Ferrari, Milan, Italy., Lee C; School of Biological Sciences, Monash University, Melbourne, Australia., Serrano RJ; School of Biological Sciences, Monash University, Melbourne, Australia., Baxter EC; School of Biological Sciences, Monash University, Melbourne, Australia., Monro K; School of Biological Sciences, Monash University, Melbourne, Australia., Torrente Y; Stem Cell Laboratory, Department of Pathophysiology and Transplantation, Università Degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Centro Dino Ferrari, Milan, Italy., Ramm G; Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia.; Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Australia., Stojkovic T; Institut de Myologie, Centre de Référence des Maladies Neuromusculaires, Hôpital Pitié-Salpétrière, Assistance-Publique Hôpitaux de Paris, Sorbonne Université, Paris, France., Lavoie JN; Centre de Recherche Sur le Cancer de l'Université Laval, Ville de Québec, Canada.; Oncologie, Centre de Recherche du Centre Hospitalier Universitaire (CHU) de Québec-Université Laval, Ville de Québec, Canada.; Département de Biologie Moléculaire, Biochimie Médicale et Pathologie, Université Laval, Ville de Québec, Canada., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Australia.

Publikováno v: Autophagy [Autophagy] 2021 Sep; Vol. 17 (9), pp. 2494-2510. Date of Electronic Publication: 2020 Oct 19.