Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

ABSTRACT: Alterations of Ca²⁺ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca²⁺ efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inositol 1,4,5-trisphosphate receptors are then rapidly degraded by the endoplasmic reticulum-associated degradation pathway. Mutations in genes encoding the neuronal isoform of the inositol 1,4,5-trisphosphate receptor (ITPR1) and genes involved in inositol 1,4,5-trisphosphate receptor degradation (ERLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxia. We provide evidence that mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degra

SUBMITTER: Wagner M 

PROVIDER: S-EPMC6803694 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature