ArticleMovement disorders : official journal of the Movement Disorder Society2024
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Article in Movement disorders : official journal of the Movement Disorder Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Clinical and Molecular Heterogeneity ofGenes · 2026Article
- Congenital Ataxic Phenotype of ITPR1-Related Disorders Due to Novel Missense Variants: A Video Case Series.Journal of movement disorders · 2026Article
- ITPR1 mediates the PI3K/AKT/mTOR pathway to regulate cellular autophagy, affecting lipopolysaccharide-induced pediatric inflammatory bowel disease.BMC gastroenterology · 2026Article
- Expanding the Early Childhood Manifestations ofNeurology. Genetics · 2026Article
- Observational
- Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Guanidine aptamers are present in vertebrate RNAs associated with calcium signaling and neuromuscular function.Nature communications · 2025Article
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- Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.Cerebellum (London, England) · 2024Review
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
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Authors and funding
49 authors at 20 institutions in 6 countries.
Funding
Abstract
backgroundThe ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP
objectivesWe aimed to identify novel SCA29 and GLSP cases to define core phenotypes, describe the spectrum of missense variation across ITPR1, standardize the ITPR1 variant nomenclature, and investigate disease progression in relation to cerebellar atrophy.
methodsCases were identified using next-generation sequencing through the Deciphering Developmental Disorders study, the 100,000 Genomes project, and clinical collaborations. ITPR1 alternative splicing in the human cerebellum was investigated by quantitative polymerase chain reaction.
resultsWe report the largest, multinational case series of 46 patients with 28 unique ITPR1 missense variants. Variants clustered in functional domains of the protein, especially in the N-terminal IP
conclusionsThis dataset represents the largest cohort of patients with ITPR1 missense variants, expanding the clinical spectrum of SCA29 and GLSP. Standardized transcript annotation is essential for future reporting. Our findings will aid in diagnostic interpretation in the clinic and guide selection of variants for preclinical studies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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