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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Autores principales:	Noah Guy Lewis Guiberson, André Pineda, Debra Abramov, Parinati Kharel, Kathryn E. Carnazza, Rachel T. Wragg, Jeremy S. Dittman, Jacqueline Burré
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/46814a5c07da4b2497e97fb3a489c145
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spelling	oai:doaj.org-article:46814a5c07da4b2497e97fb3a489c1452021-12-02T16:49:18ZMechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones10.1038/s41467-018-06507-42041-1723https://doaj.org/article/46814a5c07da4b2497e97fb3a489c1452018-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06507-4https://doaj.org/toc/2041-1723Munc18-1 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.Noah Guy Lewis GuibersonAndré PinedaDebra AbramovParinati KharelKathryn E. CarnazzaRachel T. WraggJeremy S. DittmanJacqueline BurréNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Noah Guy Lewis Guiberson André Pineda Debra Abramov Parinati Kharel Kathryn E. Carnazza Rachel T. Wragg Jeremy S. Dittman Jacqueline Burré Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
description	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.
format	article
author	Noah Guy Lewis Guiberson André Pineda Debra Abramov Parinati Kharel Kathryn E. Carnazza Rachel T. Wragg Jeremy S. Dittman Jacqueline Burré
author_facet	Noah Guy Lewis Guiberson André Pineda Debra Abramov Parinati Kharel Kathryn E. Carnazza Rachel T. Wragg Jeremy S. Dittman Jacqueline Burré
author_sort	Noah Guy Lewis Guiberson
title	Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
title_short	Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
title_full	Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
title_fullStr	Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
title_full_unstemmed	Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones
title_sort	mechanism-based rescue of munc18-1 dysfunction in varied encephalopathies by chemical chaperones
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/46814a5c07da4b2497e97fb3a489c145
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Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones

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