Type 1 inositol trisphosphate receptor regulates cerebellar circuits by maintaining the spine morphology of purkinje cells in adult mice.
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Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxiaA missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Aberrant calcium signaling by transglutaminase-mediated posttranslational modification of inositol 1,4,5-trisphosphate receptorsA variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type IIP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice.Long-term in vivo time-lapse imaging of synapse development and plasticity in the cerebellum.Intracellular calcium channels: inositol-1,4,5-trisphosphate receptors.Endoplasmic reticulum calcium stores in dendritic spinesAmniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele.Roles of Calcium Stores and Store-Operated Channels in Plasticity of Dendritic Spines.Regulation of spinogenesis in mature Purkinje cells via mGluR/PKC-mediated phosphorylation of CaMKIIβ.IP3 receptor mutations and brain diseases in human and rodents.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Bidirectional Control of Synaptic GABAAR Clustering by Glutamate and Calcium.Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1.Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.IP3-mediated gating mechanism of the IP3 receptor revealed by mutagenesis and X-ray crystallography.Ethanol-related alterations in gene expression patterns in the developing murine hippocampus.Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Activity-dependent structural plasticity of Purkinje cell spines in cerebellar vermis and hemisphere.Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders.Endoplasmic reticulum (ER) Ca2+-channel activity contributes to ER stress and cone death in cyclic nucleotide-gated channel deficiency.Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Lesion-induced and activity-dependent structural plasticity of Purkinje cell dendritic spines in cerebellar vermis and hemisphere.A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
P2860
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P2860
Type 1 inositol trisphosphate receptor regulates cerebellar circuits by maintaining the spine morphology of purkinje cells in adult mice.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@en
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@nl
type
label
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@en
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@nl
prefLabel
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@en
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@nl
P2093
P50
P1476
Type 1 inositol trisphosphate ...... purkinje cells in adult mice.
@en
P2093
Katsuhiko Mikoshiba
Soichi Nagao
Takeyuki Sugawara
Tsutomu Hashikawa
Tung Dinh Le
P304
12186-12196
P356
10.1523/JNEUROSCI.0545-13.2013
P407
P577
2013-07-01T00:00:00Z