Article
Munc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregation.
The Journal of cell biology - 12 Sept 2016
Chai Ye Jin, Sierecki Emma, Tomatis Vanesa M, Gormal Rachel S, Giles Nichole, Morrow Isabel C, Xia Di, Götz Jürgen, Parton Robert G, Collins Brett M, Gambin Yann, Meunier Frédéric A
Abstract excerpt
Munc18-1 is a key component of the exocytic machinery that controls neurotransmitter release. Munc18-1 heterozygous mutations cause developmental defects and epileptic phenotypes, including infantile epileptic encephalopathy (EIEE), suggestive of a gain of pathological function. Here, we used single-molecule analysis, gene-edited cells, and neurons to demonstrate that Munc18-1 EIEE-causing mutants form large...
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