p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus-Reference-Cited by-同舟云学术

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p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

Published:2020-11-04 Issue: Volume:8 Page:
ISSN:2296-634X
Container-title:Frontiers in Cell and Developmental Biology
language:
Short-container-title:Front. Cell Dev. Biol.

Author:

Li Yulei,Jiang Lei,Wang Lejin,Wang Cheng,Liu Chunjie,Guo Anyuan,Liu Mugen,Zhang Luoying,Ma Cong,Zhang Xianqin,Gao Shangbang,Liu Jing Yu

Funder

National Natural Science Foundation of China

Publisher

Frontiers Media SA

Subject

Cell Biology,Developmental Biology

Reference48 articles.

1. Unexplained early onset epileptic encephalopathy: exome screening and phenotype expansion.;Allen;Epilepsia,2016

2. The genetics of Caenorhabditis elegans.;Brenner;Genetics,1974

3. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.;Cabot;Am. J. Hum. Genet.,1999

4. Syntaxin 3B is essential for the exocytosis of synaptic vesicles in ribbon synapses of the retina.;Curtis;Neuroscience,2010

5. Syntaxin 3b is a t-SNARE specific for ribbon synapses of the retina.;Curtis;J. Comp. Neurol.,2008

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1. The role of syntaxins in retinal function and health;Frontiers in Cellular Neuroscience;2024-05-10

2. A common cause for nystagmus in different congenital stationary night blindness mouse models;The Journal of Physiology;2023-10-21

3. Regulation of Syntaxin3B-Mediated Membrane Fusion by T14, Munc18, and Complexin;Biomolecules;2023-09-28

4. A retinal origin of nystagmus—a perspective;Frontiers in Ophthalmology;2023-06-08

5. A Common Cause for Nystagmus in Different Congenital Stationary Night Blindness Mouse Models;2023-04-28

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