(Q22253850)

spinocerebellar ataxia type 6

GOA release 2020-03-11

1 reference

S Toru

1

S

Toru

1 reference

29 March 2023

T Murakoshi

2

T

Murakoshi

1 reference

29 March 2023

K Ishikawa

3

K

Ishikawa

1 reference

29 March 2023

H Saegusa

4

H

Saegusa

1 reference

29 March 2023

H Fujigasaki

5

H

Fujigasaki

1 reference

29 March 2023

T Uchihara

6

T

Uchihara

1 reference

29 March 2023

S Nagayama

7

S

Nagayama

1 reference

29 March 2023

M Osanai

8

M

Osanai

1 reference

29 March 2023

H Mizusawa

9

H

Mizusawa

1 reference

29 March 2023

T Tanabe

10

T

Tanabe

1 reference

Journal of Biological Chemistry

29 March 2023

language of work or name

English

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publication date

14 April 2000

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published in

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volume

275

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issue

15

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page(s)

10893-8

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cites work

Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Distribution and functional significance of the P-type, voltage-dependent Ca2+ channels in the mammalian central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Primary structure and functional expression from complementary DNA of a brain calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Molecular determinants of calcium-dependent inactivation in cardiac L-type calcium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Cerebellar cell degeneration in the leaner mutant mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

Calcium control of transmitter release at a cerebellar synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

7 January 2021

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

7 January 2021

Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

7 January 2021

Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

7 January 2021

Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.15.10893

7 January 2021

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Identifiers

DOI

10.1074/JBC.275.15.10893

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Fatcat ID

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