A Gain-of-function Mutation in the Gating Domain of ITPR1 Impairs Motor Movement and Increases Thermal and Mechanical Sensitivity.

doi:10.1016/j.neuroscience.2023.04.031

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Article

A Gain-of-function Mutation in the Gating Domain of ITPR1 Impairs Motor Movement and Increases Thermal and Mechanical Sensitivity.

Neuroscience - 1 Jul 2023

Yao Jinjing, Ni Mingke, Tian Shanshan, Sun Bo, Wang Ruiwu, Estillore John Paul, Back Thomas G, Chen S R Wayne

Abstract excerpt

Inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) is an intracellular Ca2+ release channel important for a number of fundamental cellular functions. Consistent with its critical physiological significance, mutations in ITPR1 are associated with disease. Surprisingly, nearly all the disease-associated ITPR1 mutations characterized to date are loss of function. Despite the paucity of ITPR1 gain-of-function (GOF)...

Topics

Mice
Animals
Gain of Function Mutation
Inositol 1,4,5-Trisphosphate Receptors
Cerebellar Ataxia
Mutation
Ataxia

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Open in PubMed

Identifiers

PMID: 37164302
DOI: 10.1016/j.neuroscience.2023.04.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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