A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

(2016) Meriel McEntagart et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

(2016) Sylvie Gerber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the IRBIT domain ofITPR1are a frequent cause of autosomal dominant nonprogressive congenital ataxia

(2016) S. Barresi et al.   CLINICAL GENETICS

In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model

(2016) Polina A. Egorova et al.   JOURNAL OF NEUROPHYSIOLOGY

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

(2015) Masayuki Sasaki et al.   JOURNAL OF NEUROLOGY

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

(2015) Jillian P. Casey et al.   Scientific Reports

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage

(2012) Masato Obayashi et al.   JOURNAL OF HUMAN GENETICS

Chronic Suppression of Inositol 1,4,5-Triphosphate Receptor-Mediated Calcium Signaling in Cerebellar Purkinje Cells Alleviates Pathological Phenotype in Spinocerebellar Ataxia 2 Mice

(2012) A. W. Kasumu et al.   JOURNAL OF NEUROSCIENCE

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family

(2011) Haruka Yamazaki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Apo and InsP3-bound crystal structures of the ligand-binding domain of an InsP3 receptor

(2011) Chun-Chi Lin et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Role of Inositol 1,4,5-Trishosphate Receptors in Pathogenesis of Huntington’s Disease and Spinocerebellar Ataxias

(2011) Ilya Bezprozvanny   NEUROCHEMICAL RESEARCH

Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15

(2010) Eleonora Di Gregorio et al.   CEREBELLUM

Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects

(2010) Maja Steinlin   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description

(2010) Marianne J.U. Novak et al.   MOVEMENT DISORDERS

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

(2009) J. Liu et al.   JOURNAL OF NEUROSCIENCE

Synthetic partial agonists reveal key steps in IP3 receptor activation

(2009) Ana M Rossi et al.   Nature Chemical Biology

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

(2008) K. Hara et al.   NEUROLOGY