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Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Cocchiararo, Ilaria; Cattaneo, Olivia; Rajendran, Jayasimman; Chabry, Florent; Cornut, Mélanie; Soldati, Hadrien; Bigot, Anne; Mamchaoui, Kamel; Gibertini, Sara; Bouche, Axelle; Ham, Daniel J; Laumonier, Thomas; Prola, Alexandre; Castets, Perrine.
Afiliação
  • Cocchiararo I; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Cattaneo O; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Rajendran J; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Chabry F; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Cornut M; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Soldati H; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Bigot A; Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Université, 47 Bd de l'Hôpital, 75013 Paris, France.
  • Mamchaoui K; Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Université, 47 Bd de l'Hôpital, 75013 Paris, France.
  • Gibertini S; Neuromuscular Diseases and Neuroimmunology Unit, Muscle Cell Biology Lab, Fondazione IRCCS Istituto Neurologico "C. Besta", Via Amadeo 42, 20133 Milano, Italy.
  • Bouche A; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Ham DJ; Department of Orthopaedic Surgery, Geneva University Hospitals and Faculty of Medicine, University Medical Center, 1 rue Michel Servet, 1211, Geneva, Switzerland.
  • Laumonier T; Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
  • Prola A; Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, 1 rue Michel Servet, CH-1211 Geneva, Switzerland.
  • Castets P; Department of Orthopaedic Surgery, Geneva University Hospitals and Faculty of Medicine, University Medical Center, 1 rue Michel Servet, 1211, Geneva, Switzerland.
Hum Mol Genet ; 32(24): 3374-3389, 2023 Dec 01.
Article em En | MEDLINE | ID: mdl-37756622

Texto completo: 1 Base de dados: MEDLINE Assunto principal: ATPases Vacuolares Próton-Translocadoras / Doenças Musculares Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: ATPases Vacuolares Próton-Translocadoras / Doenças Musculares Idioma: En Ano de publicação: 2023 Tipo de documento: Article