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...
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 |
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Format: | Article |
Language: | English |
Published: |
eLife Sciences Publications Ltd
2013-12-01
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Series: | eLife |
Subjects: | |
Online Access: | https://elifesciences.org/articles/01064 |
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