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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Hauptverfasser: Cherry, Smita, Jin, Eugene Jennifer, Özel, Mehmet Neset, Lu, Zhiyuan, Agi, Egemen, Wang, Dong, Jung, Wei-Hung, Epstein, Daniel, Meinertzhagen, Ian A, Chan, Chih-Chiang, Hiesinger, P Robin
Format: Artigo
Sprache:Inglês
Veröffentlicht: eLife Sciences Publications, Ltd 2013
Schlagworte:
Neuroscience
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3857549/
https://ncbi.nlm.nih.gov/pubmed/24327558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.01064
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