Associated Papers
Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
In Lee J et al.
Molecular Genetics & Genomic Medicine, 2024
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
37964426 (PubMed )
Supplement: MDS-39-141-s002.docx
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.
Gambardella J et al.
Journal of Clinical Medicine, 2020
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29.
Ando H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Ca2+ signaling and spinocerebellar ataxia.
Hisatsune C et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.
Casey JP et al.
Journal of Neurology, 2017
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Barresi S et al.
Clinical Genetics, 2017
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
Hsiao CT et al.
Plos One, 2017
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M et al.
American Journal of Human Genetics, 2016
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Tada M et al.
Neurochemistry International, 2016
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Sasaki M et al.
Journal of Neurology, 2015
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Fogel BL et al.
Jama Neurology, 2014
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