Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
|
22978711 |
2013 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
|
22978711 |
2013 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
|
22902780 |
2012 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
|
22073189 |
2011 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
|
22073189 |
2011 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Neuronal Ceroid Lipofuscinosis Type 4B
|
0.320 |
Biomarker
|
disease |
BEFREE |
DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease.
|
22978711 |
2013 |
Neuronal Ceroid Lipofuscinosis Type 4B
|
0.320 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study confirmed the recently reported association of DNAJC5 mutations with ADKD in two out of nine well-defined families.
|
22235333 |
2012 |
Neuronal Ceroid Lipofuscinosis Type 4B
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Our study confirmed the recently reported association of DNAJC5 mutations with ADKD in two out of nine well-defined families.
|
22235333 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
In humans, CSPα mutations are associated with the development of neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disease characterized by intracellular accumulation of lysosomal material.
|
28239331 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
Biomarker
|
disease |
BEFREE |
14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated.
|
28442266 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the DNAJC5/CLN4 gene, which encodes the presynaptic co-chaperone CSPα were shown to cause autosomal-dominant NCL.
|
26659577 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol.
|
24947438 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Mutations or overexpression of the wild type form of α-synuclein have been related to Parkinson's disease, and CSPα mutations cause one type of neuronal ceroid lipofuscinosis.
|
24036317 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
|
22978711 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
We propose that this palmitoylation-induced aggregation of mutant CSPα proteins may underlie the development of adult-onset neuronal ceroid lipofuscinosis in affected families.
|
22902780 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
|
22902780 |
2012 |