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Article

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.

Trends in neurosciences - 1 May 2010

Schorge Stephanie, van de Leemput Joyce, Singleton Andrew, Houlden Henry, Hardy John

Abstract excerpt

A persistent mystery about the ataxias has been why mutations in genes--many of which are expressed widely in the brain--primarily cause ataxia, and not, for example, epilepsy or dementia. Why should a polyglutamine stretch in the TATA-binding protein (that is important in all cells) particularly disrupt cerebellar coordination? We propose that advances in the genetics of cerebellar ataxias suggest a rational...

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Source

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Identifiers

PMID: 20226542
DOI: 10.1016/j.tins.2010.02.005
PMCID: PMC4684264

Genes

ITPR1

Provenance

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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Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.PMID 20226542Read ↗

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Semantic proximity Read ↗

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