Targeted stabilization of Munc18‐1 function via pharmacological chaperones

Abstract Heterozygous de novo mutations in the neuronal protein Munc18‐1 cause syndromic neurological symptoms, including severe epilepsy, intellectual disability, developmental delay, ataxia, and tremor. No disease‐modifying therapy exists to treat these disorders, and while chemical chaperones hav...

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Bibliographic Details

Published in:	EMBO Molecular Medicine
Main Authors:	Debra Abramov, Noah Guy Lewis Guiberson, Andrew Daab, Yoonmi Na, Gregory A Petsko, Manu Sharma, Jacqueline Burré
Format:	Article
Language:	English
Published:	Springer Nature 2020-12-01
Subjects:	Munc18‐1 pharmacological chaperone Rescue small molecule STXBP1
Online Access:	https://doi.org/10.15252/emmm.202012354