相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
S. Barresi et al.
CLINICAL GENETICS (2017)
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Meriel McEntagart et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
Sylvie Gerber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model
Polina A. Egorova et al.
JOURNAL OF NEUROPHYSIOLOGY (2016)
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene
Masayuki Sasaki et al.
JOURNAL OF NEUROLOGY (2015)
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N- terminal acetyltransferase impairment
Jillian P. Casey et al.
SCIENTIFIC REPORTS (2015)
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Claudia Gonzaga-Jauregui et al.
CELL REPORTS (2015)
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
Brent L. Fogel et al.
JAMA NEUROLOGY (2014)
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Chihiro Ohba et al.
NEUROGENETICS (2013)
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
Masato Obayashi et al.
JOURNAL OF HUMAN GENETICS (2012)
Chronic Suppression of Inositol 1,4,5-Triphosphate Receptor-Mediated Calcium Signaling in Cerebellar Purkinje Cells Alleviates Pathological Phenotype in Spinocerebellar Ataxia 2 Mice
Adebimpe W. Kasumu et al.
JOURNAL OF NEUROSCIENCE (2012)
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Lijia Huang et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
Cecilia Marelli et al.
ARCHIVES OF NEUROLOGY (2011)
Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family
Haruka Yamazaki et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2011)
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features
Matthis Synofzik et al.
JOURNAL OF MEDICAL GENETICS (2011)
Apo and InsP3-bound crystal structures of the ligand-binding domain of an InsP3 receptor
Chun-Chi Lin et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2011)
Role of Inositol 1,4,5-Trishosphate Receptors in Pathogenesis of Huntington's Disease and Spinocerebellar Ataxias
Ilya Bezprozvanny
NEUROCHEMICAL RESEARCH (2011)
Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15
Eleonora Di Gregorio et al.
CEREBELLUM (2010)
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects
Maja Steinlin
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
An ITPR1 Gene Deletion Causes Spinocerebellar Ataxia 15/16: A Genetic, Clinical and Radiological Description
Marianne J. U. Novak et al.
MOVEMENT DISORDERS (2010)
Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2
Jing Liu et al.
JOURNAL OF NEUROSCIENCE (2009)
Synthetic partial agonists reveal key steps in IP3 receptor activation
Ana M. Rossi et al.
NATURE CHEMICAL BIOLOGY (2009)
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
K. Hara et al.
NEUROLOGY (2008)
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
A. Iwaki et al.
JOURNAL OF MEDICAL GENETICS (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
IP3 receptor/Ca2+ channel: from discovery to new signaling concepts
Katsuhiko Mikoshiba
JOURNAL OF NEUROCHEMISTRY (2007)
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
Joyce van de Leemput et al.
PLOS GENETICS (2007)
Crystal structure of the ligand binding suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor
I Bosanac et al.
MOLECULAR CELL (2005)
Regulation of InsP3 receptor activity by neuronal Ca2+-binding proteins
NN Kasri et al.
EMBO JOURNAL (2004)
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
TE Dudding et al.
NEUROLOGY (2004)
Critical regions for activation gating of the inositol 1,4,5-trisphosphate receptor
K Uchida et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
分享论文
