Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Open Access
- 1 April 2019
- journal article
- research article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 104 (4) , 721-730
Abstract
No abstract availableKeywords
Funding Information
- Wellcome Trust (WT093205MA, WT104033AIA)
- Medical Research Council
- European Community's Seventh Framework Programme (FP7/2007, -, 2013, 2012, -, 305121)
- Italian CINECA Awards (HP10CRVL7F)
- ISCIII (PI15/01791)
- ERDF (PI17/00487)
- National Institute for Health Research (NIHR)
- University College London Hospitals (UCLH)
- Biomedical Research Center (BRC)
This publication has 44 references indexed in Scilit:
- Molecular machines governing exocytosis of synaptic vesiclesNature, 2012
- Single Reconstituted Neuronal SNARE Complexes Zipper in Three Distinct StagesScience, 2012
- VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland FamiliesThe American Journal of Human Genetics, 2012
- Membrane Fusion Intermediates via Directional and Full Assembly of the SNARE ComplexScience, 2012
- Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studiesJournal of Neurochemistry, 2011
- The role of Synaptobrevin1/VAMP1 in Ca2+‐triggered neurotransmitter release at the mouse neuromuscular junctionThe Journal of Physiology, 2011
- Membrane Fusion: Grappling with SNARE and SM ProteinsScience, 2009
- Synaptic vesicle fusionNature Structural & Molecular Biology, 2008
- Selective Activation of Cognate SNAREpins by Sec1/Munc18 ProteinsCell, 2007
- Regulation of membrane fusion by the membrane-proximal coil of the t-SNARE during zippering of SNAREpinsJournal of Cell Biology, 2002