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Article

A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice.

Journal of cellular physiology - 1 Aug 2022

Sun Bo, Ni Mingke, Tian Shanshan, Guo Wenting, Cai Shitian, Sondergaard Mads T, Chen Yongxiang, Mu Yongxin, Estillore John P, Wang Ruiwu, Chen Ju, Overgaard Michael T, Fill Michael, Ramos-Franco Josefina, Nyegaard Mette, Wayne Chen Sui Rong

Abstract excerpt

Inositol 1,4,5-trisphosphate receptor 1 (ITPR1) is an intracellular Ca2+ release channel critical for numerous cellular processes. Despite its ubiquitous physiological significance, ITPR1 mutations have thus far been linked to primarily movement disorders. Surprisingly, most disease-associated ITPR1 mutations generate a loss of function. This leaves our understanding of ITPR1-associated pathology oddly one-sided,...

Topics

Animals
Calcium
Gain of Function Mutation
HEK293 Cells
Humans
Infertility, Male
Inositol 1,4,5-Trisphosphate
Inositol 1,4,5-Trisphosphate Receptors
Male
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35621185
DOI: 10.1002/jcp.30783

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

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