Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene - 10 Sept 2017

Dentici Maria Lisa, Barresi Sabina, Nardella Marta, Bellacchio Emanuele, Alfieri Paolo, Bruselles Alessandro, Pantaleoni Francesca, Danieli Alberto, Iarossi Giancarlo, Cappa Marco, Bertini Enrico, Tartaglia Marco, Zanni Ginevra

Abstract excerpt

ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation of Ca2+ homeostasis. Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar atrophy. Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aniridia
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Gene Deletion

Share to Inositol 1,4,5-Trisphosphate Receptors

Share to Intellectual Disability

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 28698159
DOI: 10.1016/j.gene.2017.07.017
PMCID: PMC5607352

Genes

ITPR1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.PMID 28698159Read ↗

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Semantic proximity Read ↗

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Semantic proximity Read ↗

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

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.Semantic proximity Read ↗

ITPR1: The missing gene in miosis-ataxia syndrome?Semantic proximity Read ↗

Insights into heterozygous ITPR1 variants associated with ataxia and miosisSemantic proximity Read ↗

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignSemantic proximity Read ↗

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.Semantic proximity Read ↗

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.Semantic proximity Read ↗

An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.Semantic proximity Read ↗

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.Semantic proximity Read ↗

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.