Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Author:
Funder
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s10038-024-01228-7.pdf
Reference24 articles.
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2. Raptis A, Torrejon-Escribano B, Gomez de Aranda I, Blasi J. Distribution of synaptobrevin/VAMP 1 and 2 in rat brain. J Chem Neuroanat. 2005;30:201–11.
3. Elferink LA, Trimble WS, Scheller RH. Two vesicle-associated membrane protein genes are differentially expressed in the rat central nervous system. J Biol Chem. 1989;264:11061–4.
4. Hasan N, Corbin D, Hu C. Fusogenic pairings of vesicle-associated membrane proteins (VAMPs) and plasma membrane t-SNAREs-VAMP5 as the exception. PLoS One. 2010;5:e14238.
5. Yan C, Jiang J, Yang Y, Geng X, Dong W. The function of VAMP2 in mediating membrane fusion: an overview. Front Mol Neurosci. 2022;15:948160.
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