Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29

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Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

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

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IP3-mediated gating mechanism of the IP3receptor revealed by mutagenesis and X-ray crystallography

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

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

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

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(2016) Michael J. Berridge   PHYSIOLOGICAL REVIEWS

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Defining the stoichiometry of inositol 1,4,5-trisphosphate binding required to initiate Ca2+release

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

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Abolished InsP3R2 function inhibits sweat secretion in both humans and mice

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Do mutations in the murine ataxia geneTRPC3cause cerebellar ataxia in humans?

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

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Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice

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

(2013) Chihiro Ohba et al.   NEUROGENETICS

IP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice

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Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

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Structural and functional conservation of key domains in InsP3 and ryanodine receptors

(2012) Min-Duk Seo et al.   NATURE

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

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

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

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Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15

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Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

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CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

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Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

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

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