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VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy.

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Title: VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy.
Authors: Suarez CA; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Pittman SK; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Inoue M; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Lynch EM; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Moran A; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Merlet AN; Department of Clinical Physiology and Exercice, Myology Unit, Reference Center for Neuromuscular Diseases, Euro-NMD, University Hospital of Saint-Etienne, Saint-Priest-en-Jarez, France.; Interuniversity Laboratory of Human Movement Biology, Jean-Monnet University, Saint-Etienne, France., Lacenne E; Functional Unit of Neuromuscular Pathology, Department of Neuropathology, Myology Institute, Pitié-Salpêtrière Hospital, Assistance Publique Des Hôpitaux de Paris, Sorbonne University, Paris, France., Evangelista T; Functional Unit of Neuromuscular Pathology, Department of Neuropathology, Myology Institute, Pitié-Salpêtrière Hospital, Assistance Publique Des Hôpitaux de Paris, Sorbonne University, Paris, France., Weihl CC; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA. weihlc@wustl.edu.; Department of Neurology, Washington University School of Medicine, WashU Jeffrey T. Fort Neuroscience Research Building, Room 8170, 4370 Duncan Avenue, St. Louis, MO, 63110, USA. weihlc@wustl.edu.
Source: Acta neuropathologica [Acta Neuropathol] 2026 Jun 26; Vol. 151 (1). Date of Electronic Publication: 2026 Jun 26.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy.
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  Data: <searchLink fieldCode="AU" term="%22Suarez+CA%22">Suarez CA</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Pittman+SK%22">Pittman SK</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Inoue+M%22">Inoue M</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Lynch+EM%22">Lynch EM</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Moran+A%22">Moran A</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.<br /><searchLink fieldCode="AU" term="%22Merlet+AN%22">Merlet AN</searchLink>; Department of Clinical Physiology and Exercice, Myology Unit, Reference Center for Neuromuscular Diseases, Euro-NMD, University Hospital of Saint-Etienne, Saint-Priest-en-Jarez, France.; Interuniversity Laboratory of Human Movement Biology, Jean-Monnet University, Saint-Etienne, France.<br /><searchLink fieldCode="AU" term="%22Lacenne+E%22">Lacenne E</searchLink>; Functional Unit of Neuromuscular Pathology, Department of Neuropathology, Myology Institute, Pitié-Salpêtrière Hospital, Assistance Publique Des Hôpitaux de Paris, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; Functional Unit of Neuromuscular Pathology, Department of Neuropathology, Myology Institute, Pitié-Salpêtrière Hospital, Assistance Publique Des Hôpitaux de Paris, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Weihl+CC%22">Weihl CC</searchLink>; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA. weihlc@wustl.edu.; Department of Neurology, Washington University School of Medicine, WashU Jeffrey T. Fort Neuroscience Research Building, Room 8170, 4370 Duncan Avenue, St. Louis, MO, 63110, USA. weihlc@wustl.edu.
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  Data: <searchLink fieldCode="JN" term="%220412041%22">Acta neuropathologica</searchLink> [Acta Neuropathol] 2026 Jun 26; Vol. 151 (1). <i>Date of Electronic Publication: </i>2026 Jun 26.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>0412041 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-0533 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200016322%22">00016322 </searchLink><i>NLM ISO Abbreviation: </i>Acta Neuropathol <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s00401-026-03044-z
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              Text: 2026 Jun 26
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