Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function

Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function

The small GTPase Rab7 is a key regulator of endosomal maturation in eukaryotic cells. Mutations in rab7 are thought to cause the dominant neuropathy Charcot-Marie-Tooth 2B (CMT2B) by a gain-of-function mechanism. Here we show that loss of rab7, but not overexpression of rab7 CMT2B mutants, causes ad...

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Bibliographic Details
Main Authors: Smita Cherry, Eugene Jennifer Jin, Mehmet Neset Özel, Zhiyuan Lu, Egemen Agi, Dong Wang, Wei-Hung Jung, Daniel Epstein, Ian A Meinertzhagen, Chih-Chiang Chan, P Robin Hiesinger
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2013-12-01
Series:eLife
Subjects:
endosome
neuropathy
genetic
synapse
Online Access:https://elifesciences.org/articles/01064

Internet

https://elifesciences.org/articles/01064

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