PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
|
25662902 |
2015 |
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHCHD2 and Parkinson's disease.
|
26067110 |
2015 |
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
|
25662902 |
2015 |
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHCHD2 and Parkinson's disease.
|
26067110 |
2015 |
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.
|
30342766 |
2019 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prion-like activity and morphology of α-synuclein fibrils from CHCHD2 T61I brain tissue were similar to those of fibrils from SNCA duplication and sporadic PD brain tissues.
|
31600778 |
2019 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We therefore propose that CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I.
|
30530185 |
2019 |
Amino acids measurement
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.
|
30659259 |
2019 |
Serine measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.
|
30659259 |
2019 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three other neurodegenerative diseases, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), share significant overlaps with PD in clinical phenotypes, pathological features and genetic heredities, and it is still unclear whether CHCHD2 variants could explain these three diseases.
|
29749507 |
2018 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in CHCHD10 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia, and mutations in CHCHD2 have been associated with Parkinson's disease, but the function of these proteins remains unknown.
|
29121267 |
2018 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
As an important multifunctional protein involved in regulation of mitochondrial metabolism, CHCHD2 was identified as a causative gene for Parkinson's disease (PD), yet the relationship between CHCHD2 and neurodegenerative dementia is not well understood.
|
29376860 |
2018 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, a novel CHCHD2 mutation was identified in a family with Parkinson's disease (Shi et al., 2016), and the fibroblasts of the patient were successfully transformed into iPSCs.
|
30237140 |
2018 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population.
|
28108040 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These PD-associated phenotypes are rescued by the overexpression of the translation inhibitor 4E-BP and by the introduction of human CHCHD2 but not its PD-associated mutants.
|
28589937 |
2017 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients.
|
27814991 |
2017 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, our study suggests that CHCHD2 is probably not involved in the etiopathogenesis of PD in our population.
|
27839904 |
2017 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This result suggests that CHCHD2 mutations might not be the common cause of PD in South Italy.
|
27839905 |
2017 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson's disease and meta-analysis of the literature.
|
27269965 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.
|
26639156 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
CHCHD2, which encodes a regulator of mitochondrial metabolism, has been linked to Parkinson's disease (PD) in a Japanese population.
|
27538669 |
2016 |
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease.
|
27353515 |
2016 |
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD).
|
27717833 |
2016 |