Associated Papers
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Kinoshita A et al.
Development (cambridge, England), 2021
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
Terry LE et al.
The Journal of Biological Chemistry, 2020
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
Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.
Terry LE et al.
Messenger (los Angeles, Calif. : Print), 2018
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
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.
van Dijk T et al.
American Journal of Medical Genetics. Part A, 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
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