(Q28116910)

English

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

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scholarly article

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PubMed publication ID

4 January 2017

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia (English)

1 reference

PubMed publication ID

4 January 2017

0 references

Calcium voltage-gated channel subunit alpha1 G

1 reference

GOA release 2020-03-11

calcium ion transmembrane transport

1 reference

GOA release 2020-03-11

0 references

spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

Hiroyuki Morino

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Hirofumi Maruyama

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Kouichi Hashimoto

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Hideshi Kawakami

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Yukiko Matsuda

2

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ryosuke Miyamoto

4

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ryosuke Ohsawa

5

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Toshiyuki Ohtake

6

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Reiko Otobe

7

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Masahiko Watanabe

8

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

29 December 2015

1 reference

PubMed publication ID

4 January 2017

Molecular Brain

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

8

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

89

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Predicting deleterious amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

Functional coupling between mGluR1 and Cav3.1 T-type calcium channels contributes to parallel fiber-induced fast calcium signaling within Purkinje cell dendritic spines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

20 March 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

7 April 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

7 April 2017

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

7 April 2017

A more efficient method to generate integration-free human iPS cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

7 April 2017

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

7 April 2017

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

7 April 2017

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Mutations in KCND3 cause spinocerebellar ataxia type 22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Update on degenerative ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Ontogeny-recapitulating generation and tissue integration of ES cell-derived Purkinje cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

T-type calcium channels in differentiation and proliferation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Lack of delta waves and sleep disturbances during non-rapid eye movement sleep in mice lacking alpha1G-subunit of T-type calcium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Differential distribution of three members of a gene family encoding low voltage-activated (T-type) calcium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Subthreshold oscillations and resonant behavior: two manifestations of the same mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4693440

29 September 2017

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0180-4

21 January 2018

The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0180-4

21 January 2018

Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells.

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0180-4

21 January 2018

Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2+) channels

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0180-4

21 January 2018

Life's transistors

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0180-4

21 January 2018

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

1 reference

https://pubmed.ncbi.nlm.nih.gov/26715324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Minimal alterations in T-type calcium channel gating markedly modify physiological firing dynamics

1 reference

https://pubmed.ncbi.nlm.nih.gov/26715324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13041-015-0180-4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Dimensions Publication ID

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1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

2 references

PubMed publication ID

4 January 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26715324%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

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