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Article

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

eLife - 10 Dec 2013

Cherry Smita, Jin Eugene Jennifer, Ozel Mehmet Neset, Lu Zhiyuan, Agi Egemen, Wang Dong, Jung Wei-Hung, Epstein Daniel, Meinertzhagen Ian A, Chan Chih-Chiang, Hiesinger P Robin

Abstract excerpt

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 adult-onset neurodegeneration in a Drosophila model. All CMT2B mutant proteins retain 10-50% function based on...

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Identifiers

PMID: 24327558
DOI: 10.7554/eLife.01064
PMCID: PMC3857549

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Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.PMID 24327558Read ↗

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