(Q26864714)

English

Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia

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29 February 2020

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Europe PubMed Central

Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia (English)

2 references

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25653583%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

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spinocerebellar ataxia

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based on heuristic

inferred from title

2

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29 February 2020

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Sherry-Ann Brown

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29 February 2020

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1 January 2014

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29 February 2020

Frontiers in Neuroscience

2 references

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29 February 2020

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29 February 2020

453

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Europe PubMed Central

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29 February 2020

Neuroprotective effects of inositol 1,4,5-trisphosphate receptor C-terminal fragment in a Huntington's disease mouse model

1 reference

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21 March 2017

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

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21 March 2017

RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice

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21 March 2017

Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency

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21 March 2017

Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1

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21 March 2017

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

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21 March 2017

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

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21 March 2017

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

1 reference

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21 March 2017

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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21 March 2017

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

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21 March 2017

Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels

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21 March 2017

Phosphorylation of the AMPA receptor subunit GluR2 differentially regulates its interaction with PDZ domain-containing proteins

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21 March 2017

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

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21 March 2017

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

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21 March 2017

Nitric oxide regulates input specificity of long-term depression and context dependence of cerebellar learning

1 reference

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21 March 2017

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

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21 March 2017

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

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21 March 2017

Association of type 1 inositol 1,4,5-trisphosphate receptor with AKAP9 (Yotiao) and protein kinase A

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21 March 2017

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

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21 March 2017

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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21 March 2017

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3

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21 March 2017

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia

1 reference

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21 March 2017

Functional characterization of mammalian inositol 1,4,5-trisphosphate receptor isoforms

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21 March 2017

The versatility and universality of calcium signalling

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7 April 2017

The role of protein kinase C in cell surface signal transduction and tumour promotion

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7 April 2017

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21 January 2018

Computational neurobiology is a useful tool in translational neurology: the example of ataxia

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28 September 2017

Focused cerebellar laser light induced hyperthermia improves symptoms and pathology of polyglutamine disease SCA1 in a mouse model

1 reference

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28 September 2017

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

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28 September 2017

A novel locus for episodic ataxia:UBR4 the likely candidate

1 reference

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28 September 2017

Mutations in KCND3 cause spinocerebellar ataxia type 22.

1 reference

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28 September 2017

Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2

1 reference

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28 September 2017

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

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28 September 2017

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

1 reference

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28 September 2017

Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases

1 reference

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28 September 2017

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

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28 September 2017

Gene expression analysis on a single cell level in Purkinje cells of Huntington's disease transgenic mice

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28 September 2017

Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia

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28 September 2017

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28 September 2017

Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation

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28 September 2017

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

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28 September 2017

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model

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28 September 2017

Virtual NEURON: a strategy for merged biochemical and electrophysiological modeling

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28 September 2017

Type 1 IP3 receptors activate BKCa channels via local molecular coupling in arterial smooth muscle cells.

1 reference

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28 September 2017

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

1 reference

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28 September 2017

The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia

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28 September 2017

KCa channels as therapeutic targets in episodic ataxia type-2

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28 September 2017

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias

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28 September 2017

Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells.

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28 September 2017

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

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28 September 2017

Depolarization increases phosphatidylinositol (PI) 4,5-bisphosphate level and KCNQ currents through PI 4-kinase mechanisms

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28 September 2017

Kinetics of PIP2 metabolism and KCNQ2/3 channel regulation studied with a voltage-sensitive phosphatase in living cells

1 reference

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28 September 2017

Hydrostatic pressure-induced release of stored calcium in cultured rat optic nerve head astrocytes.

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28 September 2017

Multiple Ca2+ signaling pathways regulate intracellular Ca2+ activity in human cardiac fibroblasts

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28 September 2017

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

28 September 2017

Supramolecular assemblies and localized regulation of voltage-gated ion channels.

1 reference

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28 September 2017

Systems biology perspectives on cerebellar long-term depression

1 reference

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28 September 2017

Analysis of phosphatidylinositol-4,5-bisphosphate signaling in cerebellar Purkinje spines

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28 September 2017

Order-dependent coincidence detection in cerebellar Purkinje neurons at the inositol trisphosphate receptor

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28 September 2017

A function for tyrosine phosphorylation of type 1 inositol 1,4,5-trisphosphate receptor in lymphocyte activation

1 reference

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28 September 2017

BK channels are linked to inositol 1,4,5-triphosphate receptors via lipid rafts: a novel mechanism for coupling [Ca(2+)](i) to ion channel activation

1 reference

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28 September 2017

IP3 receptor/Ca2+ channel: from discovery to new signaling concepts

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28 September 2017

Effects of carbonic anhydrase VIII deficiency on cerebellar gene expression profiles in the wdl mouse

1 reference

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28 September 2017

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

1 reference

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28 September 2017

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

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28 September 2017

A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

1 reference

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28 September 2017

Modeling and analysis of calcium signaling events leading to long-term depression in cerebellar Purkinje cells.

1 reference

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28 September 2017

Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice

1 reference

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28 September 2017

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.

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28 September 2017

Of rafts and moving water

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28 September 2017

Homeostatic compensation maintains Ca2+ signaling functions in Purkinje neurons in the leaner mutant mouse

1 reference

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28 September 2017

Kinetic analysis of receptor-activated phosphoinositide turnover

1 reference

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28 September 2017

Modulation of type 1 inositol (1,4,5)-trisphosphate receptor function by protein kinase a and protein phosphatase 1alpha.

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28 September 2017

Functional characterization of the type 1 inositol 1,4,5-trisphosphate receptor coupling domain SII(+/-) splice variants and the Opisthotonos mutant form

1 reference

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28 September 2017

The complex and intriguing lives of PIP2 with ion channels and transporters

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28 September 2017

Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1).

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28 September 2017

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

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28 September 2017

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

1 reference

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28 September 2017

Isoform diversity of the inositol trisphosphate receptor in cell types of mouse origin

1 reference

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28 September 2017

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

1 reference

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28 September 2017

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.

1 reference

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28 September 2017

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

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28 September 2017

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

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28 September 2017

Primary structure and functional expression of the inositol 1,4,5-trisphosphate-binding protein P400.

1 reference

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28 September 2017

Single amino acid repeats connect viruses to neurodegeneration.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

31 May 2018

Activation of the inositol (1,4,5)-triphosphate calcium gate receptor is required for HIV-1 Gag release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

31 May 2018

Impaired TNF-alpha control of IP3R-mediated Ca2+ release in Alzheimer's disease mouse neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

31 May 2018

Anomalous diffusion in Purkinje cell dendrites caused by spines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

31 May 2018

Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

31 May 2018

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Requirement of AMPA receptor GluR2 phosphorylation for cerebellar long-term depression.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Local calcium signalling by inositol-1,4,5-trisphosphate in Purkinje cell dendrites.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Cholinergic augmentation of insulin release requires ankyrin-B.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Climbing fibre induced depression of both mossy fibre responsiveness and glutamate sensitivity of cerebellar Purkinje cells.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Molecular alterations in the cerebellum of the plasma membrane calcium ATPase 2 (PMCA2)-null mouse indicate abnormalities in Purkinje neurons

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Low-threshold potassium channels and a low-threshold calcium channel regulate Ca2+ spike firing in the dendrites of cerebellar Purkinje neurons: a modeling study.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Negative modulation of inositol 1,4,5-trisphosphate type 1 receptor expression prevents dystrophin-deficient muscle cells death

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Type 1 inositol trisphosphate receptor regulates cerebellar circuits by maintaining the spine morphology of purkinje cells in adult mice

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

A new class of synaptic response involving calcium release in dendritic spines.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Phosphorylation of type-1 inositol 1,4,5-trisphosphate receptors by cyclic nucleotide-dependent protein kinases: a mutational analysis of the functionally important sites in the S2+ and S2- splice variants

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Coincidence detection in single dendritic spines mediated by calcium release.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Conditional protein phosphorylation regulates BK channel activity in rat cerebellar Purkinje neurons.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Calcium-activated potassium channels are selectively coupled to P/Q-type calcium channels in cerebellar Purkinje neurons.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Calcium signaling molecules in human cerebellum at midgestation and in ataxia.

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Spatial Organization and Diffusion in Neuronal Signaling

1 reference

https://api.crossref.org/works/10.3389%2FFNINS.2014.00453

21 January 2018

Somatic and dendritic small-conductance calcium-activated potassium channels regulate the output of cerebellar Purkinje neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

28 November 2018

Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

28 November 2018

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

28 November 2018

Metabotropic glutamate receptor activation in cerebellar Purkinje cells as substrate for adaptive timing of the classically conditioned eye-blink response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300941

28 November 2018

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conditional and unconditional inhibition of calcium-activated potassium channels by reversible protein phosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dendritic spines of CA 1 pyramidal cells in the rat hippocampus: serial electron microscopy with reference to their biophysical characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dendritic spines of rat cerebellar Purkinje cells: serial electron microscopy with reference to their biophysical characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of protein kinase C inhibits calcium-activated potassium channels in rat pituitary tumour cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline

1 reference

https://pubmed.ncbi.nlm.nih.gov/25653583

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3389/FNINS.2014.00453

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25653583%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25653583%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25653583%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

ResearchGate publication ID

0 references

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