Gain-of-function mutation of a voltage-gated sodium channel Na(V)1.7 associated with peripheral pain and impaired limb development

Dominant mutations in voltage-gated sodium channel Na(V)1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain and redness of the distal extremities. Na(V)1.7 is preferentially expressed within peripheral sensory and sympathetic neurons. Here, we descr...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Biol Chem
Prif Awduron: Tanaka, Brian S., Nguyen, Phuong T., Zhou, Eray Yihui, Yang, Yong, Yarov-Yarovoy, Vladimir, Dib-Hajj, Sulayman D., Waxman, Stephen G.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Biochemistry and Molecular Biology 2017
Pynciau:
Neurobiology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454107/
https://ncbi.nlm.nih.gov/pubmed/28381558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.778779
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