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

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

Abstract 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 individuals, from two families, with severe congenital mu...

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Main Authors: Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Format: Article
Language:English
Published: Springer Nature 2021-11-01
Series:EMBO Molecular Medicine
Subjects:
BET1
epilepsy
GOSR2
muscular dystrophy
SNARE
Online Access:https://doi.org/10.15252/emmm.202013787
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https://doi.org/10.15252/emmm.202013787

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