Associated Papers
ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.
Haddad S et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
Gazulla J et al.
European Journal of Neurology, 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
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
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K et al.
Cell, 2018
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Shimobayashi E et al.
Current Neuropharmacology, 2018
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Tada M et al.
Neurochemistry International, 2016
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
Kasumu A et al.
Cerebellum (london, England), 2012
Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.
Yamazaki H et al.
Biochemical and Biophysical Research Communications, 2011
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
Synofzik M et al.
Journal of Medical Genetics, 2011
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Marelli C et al.
Archives of Neurology, 2011
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.
Di Gregorio E et al.
Cerebellum (london, England), 2010
Past, present and future therapeutics for cerebellar ataxias.
Marmolino D et al.
Current Neuropharmacology, 2010