ArticleCerebellum & ataxias2016
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
Article in Cerebellum & ataxias, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky CaiScience · 2022Article
- Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.Diagnostics (Basel, Switzerland) · 2022Review
- Superior Cerebellar Atrophy: An Imaging Clue to DiagnoseInternational journal of molecular sciences · 2022Article
- Striking a balance: PIPExploration of neuroprotective therapy · 2021Article
- Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.The Journal of biological chemistry · 2020Article
- Rare CACNA1A mutations leading to congenital ataxia.Pflugers Archiv : European journal of physiology · 2020Review
- Aberrant IPProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.Messenger (Los Angeles, Calif. : Print) · 2018Article
- Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.Orphanet journal of rare diseases · 2017Review
- A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.European journal of human genetics : EJHG · 2017Article
- Article
- A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-generation family with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. The genotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identify the genetic causes of the disease in this family with the technology of whole-exome sequencing (WES). METHODS AND
resultsWES, candidate variant analysis with further Sanger sequencing, mRNA secondary structure prediction, and RSCU analysis were performed; a heterozygous missense mutation in ITPR1 was identified.
conclusionOur study confirms the fact that ITPR1 gene plays a certain role in the pathogenesis of SCAs, and, therefore, we suggest that c.4657G>A p.Val1553Met) is a disease-causing mutation in the family studied.
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