PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.

Autor: Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Tesson C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Angelova PR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Salazar-Villacorta A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Rodriguez JA; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Chung BH; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Hong Kong Genome Institute, Hong Kong SAR, China., Jaconelli M; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany., Esteras N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemistry Research Institute, Department of Biochemistry and Molecular Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain., Kwong AK; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Courtin T; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Nirujogi R; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Lewis PA; Royal Veterinary College, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sofan L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Lis P; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Pinon C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Breedveld GJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Chui MM; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Pitz V; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Makarious MB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Cassar M; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Hassan BA; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Iftikhar S; Department of Real-World evidence studies, CENTOGENE GmbH, Rostock, Germany., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Bauer P; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Tinazzi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Svetel M; Movement Disorders Department, Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia., Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hanağası HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bilgiç B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Obeso JA; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.; HM CINAC, Hospital Universitario HM Puerta del Sur, HM Hospitales, Madrid, Spain.; University CEU-San Pablo, Madrid, Spain., Kurtis MM; Neurology Department, Hospital Ruber Internacional, Madrid, Spain., Cogan G; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Başak AN; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey., Kiziltan G; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Gül T; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey., Yalçın G; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey., Elibol B; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey., Barišić N; Department of Pediatrics, University of Zagreb Medical School and University Hospital Center Zagreb, Zagreb, Croatia., Ng EW; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fan SS; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Hershkovitz T; The Genetics Institute, Galilee Medical Center, Nahariya, Israel., Weiss K; Genetics Institute, Rambam Health Care Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel., Raza Alvi J; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Azmi Alkhawaja I; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan., Froukh T; Department of Biotechnology and Genetics Engineering, Philadelphia University, Jordan., E Alrukban HA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Fauth C; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Zöggeler T; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria., Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Varghese V; All Wales Medical Genomics Service, Cardiff, United Kingdom., Gandhi S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom., Blauwendraat C; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hardy JA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Bonifati V; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany., Bertoli-Avella AM; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Steinfeld R; Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany., Alessi DR; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Steller H; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Brice A; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Abramov AY; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jun 20. Date of Electronic Publication: 2024 Jun 20.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Autor: De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Sarre A; Cardiovascular Assessment Facility, University of Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Putoux A; Service de Génétique, Hopital Femme Mere Enfant, Bron, France., Sultan T; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Raza Alvi J; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Ur Rahman Z; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA., Murphy D; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of)., Shariati G; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran (the Islamic Republic of)., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of)., Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran (the Islamic Republic of)., Lesca G; Service de Genetique, Hospices Civils de Lyon, Lyon, France., Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Service de Genetique, Hospices Civils de Lyon, Lyon, France., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Christoforou M; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Simonds WF; Metabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, MD, USA., Pedrazzini T; Experimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne, Lausanne, Switzerland., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland alexandre.reymond@unil.ch.

Publikováno v: Journal of medical genetics [J Med Genet] 2021 Dec; Vol. 58 (12), pp. 815-831. Date of Electronic Publication: 2020 Nov 10.