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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)...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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