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。Ca2+ signaling and spinocerebellar ataxia
Chihiro Hisatsune et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2018)
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
S. Barresi et al.
CLINICAL GENETICS (2017)
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
Maria Lisa Dentici et al.
GENE (2017)
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns
Jillian P. Casey et al.
JOURNAL OF NEUROLOGY (2017)
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Jessica L. Zambonin et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Splicing variation of Long-IRBIT determines the target selectivity of IRBIT family proteins
Katsuhiro Kawaai et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
IP3-mediated gating mechanism of the IP3 receptor revealed by mutagenesis and X-ray crystallography
Kozo Hamada et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects
Benjamin P. Kleinstiver et al.
NATURE (2016)
THE INOSITOL TRISPHOSPHATE/CALCIUM SIGNALING PATHWAY IN HEALTH AND DISEASE
Michael J. Berridge
PHYSIOLOGICAL REVIEWS (2016)
Defining the stoichiometry of inositol 1,415-trisphosphate binding required to initiate Ca2+ release
Kamil J. Alzayady et al.
SCIENCE SIGNALING (2016)
Defining the stoichiometry of inositol 1,415-trisphosphate binding required to initiate Ca2+ release
Kamil J. Alzayady et al.
SCIENCE SIGNALING (2016)
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg et al.
BRAIN (2015)
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)
Gating machinery of InsP3R channels revealed by electron cryomicroscopy
Guizhen Fan et al.
NATURE (2015)
Do Mutations in the Murine Ataxia Gene TRPC3 Cause Cerebellar Ataxia in Humans?
Brent L. Fogel et al.
MOVEMENT DISORDERS (2015)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias
A. Matilla-Duenas et al.
CEREBELLUM (2014)
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
Joakim Klar et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
Brent L. Fogel et al.
JAMA NEUROLOGY (2014)
Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice
Takeyuki Sugawara et al.
JOURNAL OF NEUROSCIENCE (2013)
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Chihiro Ohba et al.
NEUROGENETICS (2013)
IP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice
Chihiro Hisatsune et al.
FRONTIERS IN NEURAL CIRCUITS (2013)
Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1
Velina Guergueltcheva et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Structural and functional conservation of key domains in InsP3 and ryanodine receptors
Min-Duk Seo et al.
NATURE (2012)
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Lijia Huang et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Phenotypical Spectrum of Cerebellar Ataxia Associated With a Novel Mutation in the CA8 Gene, Encoding Carbonic Anhydrase (CA) VIII
Namik Kaya et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (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)
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)
Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15
Devika Ganesamoorthy et al.
CLINICAL CHEMISTRY (2009)
Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2
Jing Liu et al.
JOURNAL OF NEUROSCIENCE (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
Seval Tuerkmen et al.
PLOS GENETICS (2009)
Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3
Xi Chen et al.
JOURNAL OF NEUROSCIENCE (2008)
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
K. Hara et al.
NEUROLOGY (2008)
Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum
Michiru Hirasawa et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2007)
IP3 receptor/Ca2+ channel: from discovery to new signaling concepts
Katsuhiko Mikoshiba
JOURNAL OF NEUROCHEMISTRY (2007)
Inositol trisphosphate receptor Ca2+ release channels
J. Kevin Foskett et al.
PHYSIOLOGICAL REVIEWS (2007)
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
Joyce van de Leemput et al.
PLOS GENETICS (2007)
Inositol 1,4,5-trisphosphate receptor type-1 in granule cells, not in Purkinje cells, regulates the dendritic morphology of Purkinje cells through brain-derived neurotrophic factor production
Chihiro Hisatsune et al.
JOURNAL OF NEUROSCIENCE (2006)
Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice
Y Jiao et al.
GENETICS (2005)
Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1
J Hirota et al.
BIOCHEMICAL JOURNAL (2003)
Missense mutations in the regulatory domain of PKCγ:: A new mechanism for dominant nonepisodic cerebellar ataxia
DH Chen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
cDNA cloning and developmental expression of murine carbonic anhydrase-related proteins VIII, X, and XI
K Taniuchi et al.
MOLECULAR BRAIN RESEARCH (2002)
Structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with its ligand
I Bosanac et al.
NATURE (2002)
分享论文
