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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

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Title: BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Authors: Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Krause N; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany., Dergai M; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland., Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Koliwer J; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany., Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, France., Geist Hauserman J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Cummings BB; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Smith R; Maine Medical Center, Portland, ME, USA., Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA., Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA., Ghosh PS; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Edassery SL; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Ferle PE; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany., Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Rutgers New Jersey School of Medicine, Newark, NJ, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA., Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Snyder M; Department of Neurology, Children's Health, Dallas, TX, USA., Ellingwood S; Maine Medical Center, Portland, ME, USA., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Division of Neurology, Children's National Medical Center, Washington, DC, USA., Iannaccone ST; Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Dal Peraro M; Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Savas JN; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Fasshauer D; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Schwake M; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Source: EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e13787. Date of Electronic Publication: 2021 Nov 15.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
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  Data: BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Krause+N%22">Krause N</searchLink>; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Dergai+M%22">Dergai M</searchLink>; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Yun+P%22">Yun P</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Koliwer+J%22">Koliwer J</searchLink>; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Geist+Hauserman+J%22">Geist Hauserman J</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Cummings+BB%22">Cummings BB</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hu+Y%22">Hu Y</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Smith+R%22">Smith R</searchLink>; Maine Medical Center, Portland, ME, USA.<br /><searchLink fieldCode="AU" term="%22Uapinyoying+P%22">Uapinyoying P</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ghosh+PS%22">Ghosh PS</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Edassery+SL%22">Edassery SL</searchLink>; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Ferle+PE%22">Ferle PE</searchLink>; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Silverstein+S%22">Silverstein S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Rutgers New Jersey School of Medicine, Newark, NJ, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Chao+KR%22">Chao KR</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Snyder+M%22">Snyder M</searchLink>; Department of Neurology, Children's Health, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Ellingwood+S%22">Ellingwood S</searchLink>; Maine Medical Center, Portland, ME, USA.<br /><searchLink fieldCode="AU" term="%22Bharucha-Goebel+D%22">Bharucha-Goebel D</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Division of Neurology, Children's National Medical Center, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Iannaccone+ST%22">Iannaccone ST</searchLink>; Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Dal+Peraro+M%22">Dal Peraro M</searchLink>; Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Foley+AR%22">Foley AR</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Savas+JN%22">Savas JN</searchLink>; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Bolduc+V%22">Bolduc V</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Fasshauer+D%22">Fasshauer D</searchLink>; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schwake+M%22">Schwake M</searchLink>; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
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