Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia (Q33905051)

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1 November 2019

title

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

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1 November 2019

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P J Cimino

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1 November 2019

Dong-Hui Chen

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1 November 2019

Zoran Brkanac

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1 November 2019

Christophe L M J Verlinde

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1 November 2019

Xiao-Jian Tan

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1 November 2019

Laura Bylenok

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1 November 2019

David Nochlin

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1 November 2019

Mark Matsushita

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1 November 2019

Hillary Lipe

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1 November 2019

John Wolff

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1 November 2019

Magali Fernandez

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1 November 2019

Thomas D Bird

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1 November 2019

Wendy H Raskind

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1 November 2019

language of work or name

English

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publication date

17 March 2003

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American Journal of Human Genetics

1 November 2019

published in

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volume

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1 November 2019

issue

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1 November 2019

page(s)

839-849

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A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

1 November 2019

cites work

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Zinc and disease of the brain

28 July 2018

1 reference

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Cerebellar/spinocerebellar syndromes

28 July 2018

1 reference

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Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Successful molecular dynamics simulation of the zinc-bound farnesyltransferase using the cationic dummy atom approach.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

NMR Structure of a Protein Kinase C-γ Phorbol-Binding Domain and Study of Protein−Lipid Micelle Interactions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

The protein kinase C family for neuronal signaling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Residues in the Second Cysteine-rich Region of Protein Kinase C δ Relevant to Phorbol Ester Binding as Revealed by Site-directed Mutagenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Cloning and expression of multiple protein kinase C cDNAs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Distribution of protein kinase C-like immunoreactive neurons in rat brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

A candidate gene for human neurodegenerative disorders: a rat PKC gamma mutation causes a Parkinsonian syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

The C1 domain of protein kinase C as a lipid bilayer surface sensing module

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Segregation of a PRKCG mutation in two RP11 families

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

PKC gamma mutant mice exhibit mild deficits in spatial and contextual learning

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

Crystal structure of the cys2 activator-binding domain of protein kinase C delta in complex with phorbol ester

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180348

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

10 December 2018

1 reference

12 December 2020

Regional and cellular distribution of protein kinase C in rat cerebellar Purkinje cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue

1 reference

12 December 2020

Identifiers

DOI

10.1086/373883

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644968%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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1 November 2019

PubMed publication ID

12644968

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