(Q40367883)

19 September 2017

title

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

1 reference

19 September 2017

main subject

spinocerebellar ataxia

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Isabel Alonso

1

1 reference

19 September 2017

Cristina Costa

2

1 reference

19 September 2017

André Gomes

3

1 reference

19 September 2017

Anabela Ferro

4

1 reference

19 September 2017

Ana I Seixas

5

1 reference

19 September 2017

Sérgio Silva

6

1 reference

19 September 2017

Vitor Tedim Cruz

7

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19 September 2017

Paula Coutinho

8

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19 September 2017

Jorge Sequeiros

9

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19 September 2017

Isabel Silveira

10

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19 September 2017

publication date

28 September 2005

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Journal of Human Genetics

19 September 2017

published in

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19 September 2017

volume

50

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19 September 2017

issue

10

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19 September 2017

page(s)

523-529

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The extended protein kinase C superfamily

19 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-005-0287-Z

The clinical and genetic spectrum of spinocerebellar ataxia 14

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-005-0287-Z

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

21 January 2018

1 reference

12 December 2020

Regulation of the ABC kinases by phosphorylation: protein kinase C as a paradigm

1 reference

12 December 2020

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family

1 reference

12 December 2020

Cloning and expression of multiple protein kinase C cDNAs

1 reference

12 December 2020

Novel and classical protein kinase C isoforms have different functions in proliferation, survival and differentiation of neuroblastoma cells

1 reference

12 December 2020

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

1 reference

12 December 2020

Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice

1 reference

12 December 2020

A phorbol ester binding domain of protein kinase C gamma. Deletion analysis of the Cys2 domain defines a minimal 43-amino acid peptide

1 reference

12 December 2020

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

1 reference

12 December 2020

The protein kinase C family for neuronal signaling

1 reference

12 December 2020

Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

12 December 2020

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter

1 reference

12 December 2020

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting

1 reference

12 December 2020

Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death.

1 reference

12 December 2020

A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter

1 reference

12 December 2020

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

1 reference

12 December 2020

10.1007/S10038-005-0287-Z

Identifiers

DOI

1 reference

release_k5ct5odeabc25pimd4ip7czfmm

19 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/k5ct5odeabc25pimd4ip7czfmm

24 November 2022

mapped directly with Wikidata item

1 reference