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

Autor: Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Hauserman, Janelle Geist, Cummings, Beryl B., Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S., Ghosh, Partha S., Monaghan, Kristin G., Edassery, Seby L., Ferle, Pia, Silverstein, Sarah, Chao, Katherine R., Snyder, Molly, Ellingwood, Sara, Bharucha-Goebel, Diana, Iannaccone, Susan T., Dal Peraro, Matteo, Foley, A. Reghan, Savas, Jeffrey N., Bolduc, Veronique, Fasshauer, Dirk, Bonnemann, Carsten G., Schwake, Michael

Publikováno v: EMBO Molecular Medicine
EMBO Molecular Medicine, Wiley Open Access, 2021, 13 (12), ⟨10.15252/emmm.202013787⟩
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)

BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin‐5 for fusion of endoplasmic reticulum‐derived vesicles with the ER‐Golgi intermediate compartment (ERGIC) and the cis‐Golgi. Here, we report three individu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8047a2b45f56f87fac5f00482e3701f2
https://hal-amu.archives-ouvertes.fr/hal-03662312

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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

Autor: Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J.

Publikováno v: American Journal of Medical Genetics. Part A; Oct2020, Vol. 182 Issue 10, p2272-2283, 12p

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

Autor: 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.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e13787. Date of Electronic Publication: 2021 Nov 15.