Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Cause Delayed Growth Factor Receptor Transport and Altered Endosomal and Nuclear Signaling

Rab7 belongs to the Ras superfamily of small GTPases and is a master regulator of early to late endocytic membrane transport. Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT...

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Hlavní autoři: BasuRay, Soumik, Mukherjee, Sanchita, Romero, Elsa G., Seaman, Matthew N. J., Wandinger-Ness, Angela
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2013
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542998/
https://ncbi.nlm.nih.gov/pubmed/23188822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.417766
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