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Article

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Neurobiology of disease - 1 May 2014

Janssens Katrien, Goethals Sofie, Atkinson Derek, Ermanoska Biljana, Fransen Erik, Jordanova Albena, Auer-Grumbach Michaela, Asselbergh Bob, Timmerman Vincent

Abstract excerpt

Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited axonal peripheral neuropathy. It is characterised by prominent sensory loss, often complicated by severe ulcero-mutilations of toes or feet, and variable motor involvement. Missense mutations in RAB7A, the gene encoding the small GTPase Rab7, cause CMT2B and increase Rab7 activity. Rab7 is ubiquitously expressed and is involved in degradation through the...

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PMID: 24521780
DOI: 10.1016/j.nbd.2014.01.021

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