Spinocerebellar ataxia 14
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Spinocerebellar ataxia 14
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Codon 101 of PRKCG, a preferential mutation site in SCA14.
|
17659643 |
2007 |
Spinocerebellar ataxia 14
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.
|
12164726 |
2002 |
Spinocerebellar ataxia 14
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
|
12644968 |
2003 |
Spinocerebellar ataxia 14
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Because PKCγ is a well characterized signaling protein highly expressed in Purkinje cells SCA14 offers the chance to better understand the pathogenesis of Purkinje cell dysfunction and death.
|
28738819 |
2017 |
Spinocerebellar ataxia 14
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We have previously created a mouse model of SCA14 by transgenic expression of a mutated PKCγ gene causing SCA14 with a mutation in the catalytic domain.
|
30312605 |
2019 |
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
BEFREE |
We observed that PKCγ binds Hsp70 and that this interaction is enhanced in the SCA14-associated variants, mediated by the kinase domain that is involved in amyloid-like fibril formation as well as the C2 domain of PKCγ.
|
30093405 |
2018 |
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Spinocerebellar ataxia type 14 (SCA14) is a relatively pure form of autosomal dominant cerebellar ataxia mapped to chromosome 19q and caused by missense mutations in the gene encoding protein kinase C gamma (PRKCG), which are all located in the regulatory domain.
|
15313841 |
2004 |
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
|
12644968 |
2003 |
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
|
29603387 |
2018 |
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
BEFREE |
Based on these findings, we propose that PKCγ could form amyloid-like fibrils in physiological and/or pathophysiological conditions such as SCA14.
|
25217572 |
2015 |
Spinocerebellar ataxia 14
|
0.800 |
Biomarker
|
disease |
BEFREE |
PKCγ dysregulation causes abnormal Purkinje cell dendritic development and SCA14.
|
28554312 |
2018 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations have been identified in the PRKCG gene in families with SCA14.
|
16189624 |
2005 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies revealed a mutation in the protein kinase C gamma (PRKCG) gene, known to cause spinocerebellar ataxia type 14 (SCA-14).
|
17343273 |
2007 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Direct nucleotide sequencing analysis of the 18 coding exons of the PRKCG gene was performed in the 19 members of the original Japanese family with SCA14 and in 24 Japanese probands with SCA.
|
14676051 |
2003 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report the molecular neuropathology of SCA14 in post-mortem cerebellum and in human patient-derived induced pluripotent stem cells (iPSCs) carrying two distinct SCA14 mutations in the C1 domain of PKCγ, H36R and H101Q.
|
30249303 |
2018 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We subsequently screened the current Dutch ataxia cohort (approximately 900 individuals) for SCA14 mutations in the Cys2 region of the PRKCG gene.
|
15841389 |
2005 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that the mutation V138E of the protein kinase C γ (PKCγ) C1B domain (PKCγ-V138E), which is implicated in spinocerebellar ataxia type 14, exhibits a partially unfolded C-terminus.
|
24134140 |
2014 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 14 (SCA14) is a relatively pure form of autosomal dominant cerebellar ataxia mapped to chromosome 19q and caused by missense mutations in the gene encoding protein kinase C gamma (PRKCG), which are all located in the regulatory domain.
|
15313841 |
2004 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although missense mutations and a deletion mutation have been found in the protein kinase C gamma (PRKCG) gene encoding protein kinase C γ (PKCγ) in SCA14 families, a nonsense mutation has not been reported.
|
31158466 |
2019 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14).
|
16291902 |
2005 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
|
29053796 |
2017 |
Spinocerebellar ataxia 14
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
|
16763984 |
2006 |