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Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms.
Nolden, Kelsey A; Egner, John M; Collier, Jack J; Russell, Oliver M; Alston, Charlotte L; Harwig, Megan C; Widlansky, Michael E; Sasorith, Souphatta; Barbosa, Inês A; Douglas, Andrew Gl; Baptista, Julia; Walker, Mark; Donnelly, Deirdre E; Morris, Andrew A; Tan, Hui Jeen; Kurian, Manju A; Gorman, Kathleen; Mordekar, Santosh; Deshpande, Charu; Samanta, Rajib; McFarland, Robert; Hill, R Blake; Taylor, Robert W; Oláhová, Monika.
Afiliação
  • Nolden KA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Egner JM; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Collier JJ; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.
  • Russell OM; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.
  • Harwig MC; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.
  • Widlansky ME; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Sasorith S; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Barbosa IA; Department of Medicine, Division of Cardiovascular Medicine and Department of Pharmacology, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Douglas AG; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire and PhyMedExp, INSERM U1046, CNRS UMR 9214, Montpellier, France.
  • Baptista J; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
  • Walker M; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Donnelly DE; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Morris AA; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK.
  • Tan HJ; Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Kurian MA; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK.
  • Gorman K; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Mordekar S; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Deshpande C; Developmental Neurosciences Department, Zayed Centre for Research into Rare Diseases in Children, University College London Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, London, UK.
  • Samanta R; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • McFarland R; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • Hill RB; Department of Paediatric Neurology, Sheffield Children's Hospital, Sheffield, UK.
  • Taylor RW; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London, UK.
  • Oláhová M; Department of Paediatric Neurology, University Hospitals Leicester NHS Trust, Leicester, UK.
Life Sci Alliance ; 5(12)2022 08 01.
Article em En | MEDLINE | ID: mdl-35914810
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Mitocondriais / Dinâmica Mitocondrial Limite: Humans Idioma: En Revista: Life Sci Alliance Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Mitocondriais / Dinâmica Mitocondrial Limite: Humans Idioma: En Revista: Life Sci Alliance Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos