Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones

Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones

Munc18-1 is an evolutionary conserved gene whose mutations are linked to various neurological diseases in human. In order to better understand the exact nature of the mutations, the authors here utilize several model systems to show mutant Munc18-1 can aggregate and deplete functional pool of Wt pro...

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Bibliographic Details
Main Authors: Noah Guy Lewis Guiberson, André Pineda, Debra Abramov, Parinati Kharel, Kathryn E. Carnazza, Rachel T. Wragg, Jeremy S. Dittman, Jacqueline Burré
Format: Article
Language:English
Published: Nature Publishing Group 2018-09-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-018-06507-4
Description
Summary:Munc18-1 is an evolutionary conserved gene whose mutations are linked to various neurological diseases in human. In order to better understand the exact nature of the mutations, the authors here utilize several model systems to show mutant Munc18-1 can aggregate and deplete functional pool of Wt protein, and that chemical chaperones can reverse the cellular deficits.
ISSN:2041-1723

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