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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11

P J Cimino

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1 November 2019

author name string

Dong-Hui Chen

1

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1 November 2019

Zoran Brkanac

2

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1 November 2019

Christophe L M J Verlinde

3

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1 November 2019

Xiao-Jian Tan

4

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1 November 2019

Laura Bylenok

5

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1 November 2019

David Nochlin

6

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1 November 2019

Mark Matsushita

7

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1 November 2019

Hillary Lipe

8

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1 November 2019

John Wolff

9

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1 November 2019

Magali Fernandez

10

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1 November 2019

Thomas D Bird

12

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1 November 2019

Wendy H Raskind

13

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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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1 November 2019

volume

72

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1 November 2019

issue

4

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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

1 reference

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Zinc and disease of the brain

28 July 2018

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Cerebellar/spinocerebellar syndromes

28 July 2018

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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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

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

28 July 2018

1 reference

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

28 July 2018

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NMR structure of a protein kinase C-gamma phorbol-binding domain and study of protein-lipid micelle interactions

28 July 2018

1 reference

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

28 July 2018

1 reference

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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

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The protein kinase C family for neuronal signaling

28 July 2018

1 reference

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Residues in the second cysteine-rich region of protein kinase C delta relevant to phorbol ester binding as revealed by site-directed mutagenesis

28 July 2018

1 reference

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

28 July 2018

1 reference

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Cloning and expression of multiple protein kinase C cDNAs

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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

29 October 2018

1 reference

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

29 October 2018

1 reference

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

29 October 2018

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Segregation of a PRKCG mutation in two RP11 families

29 October 2018

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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

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

29 October 2018

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

29 October 2018

1 reference

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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

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

10 December 2018

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue

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12 December 2020

Identifiers

DOI

10.1086/373883

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1 November 2019

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1 November 2019

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