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A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca(2+) Signaling

RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP(3)) receptors, and also, when point mutated (arginine to cysteine at position 199), causes autosomal dominant sensory ataxia (ADSA), a disease characteriz...

Полное описание

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Библиографические подробности
Опубликовано в: :J Biol Chem
Главные авторы: Wright, Forrest A., Lu, Justine P., Sliter, Danielle A., Dupré, Nicolas, Rouleau, Guy A., Wojcikiewicz, Richard J. H.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Biochemistry and Molecular Biology 2015
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4447968/
https://ncbi.nlm.nih.gov/pubmed/25882839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.655043
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