Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Previously we identified the p.Thr61Ile mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) in a Chinese family with autosomal dominant Parkinson's disease.But the mechanism is still unclear.
|
30530185 |
2019 |
Parkinson Disease, Familial, Type 1
|
0.090 |
Biomarker
|
disease |
BEFREE |
Taken together, our results suggested CHCHD2-CHCHD10 complex may be a novel therapeutic target for PD and related neurodegenerative disorders, and Elamipretide may benefit CHCHD2 mutation-linked PD.
|
30496485 |
2019 |
Parkinson Disease, Familial, Type 1
|
0.090 |
Biomarker
|
disease |
BEFREE |
Together, these findings demonstrate that differences in the stability and mutual affinity of CHCHD2 and CHCHD10 regulate their heterodimerization in response to mitochondrial distress, revealing an unanticipated link between PD and ALS/FTD pathogenesis.
|
30084972 |
2018 |
Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Recently, using a genome-wide linkage analysis and exome sequencing, a group identified a candidate gene (CHCHD2) in a large Japanese family with autosomal dominant Parkinson's disease.
|
27839905 |
2017 |
Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that Pro2Leu in CHCHD2 may be a risk factor for PD among Asians.
|
27626775 |
2016 |
Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population.
|
27353515 |
2016 |
Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients.
|
26639156 |
2016 |
Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of mutations in CHCHD2 gene was conducted in a cohort of 92 families with autosomal dominant Parkinson's disease from mainland China.
|
26343503 |
2015 |
Parkinson Disease, Familial, Type 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Further genetic studies in other populations are needed to confirm the pathogenicity of CHCHD2 mutations in autosomal dominant Parkinson's disease and susceptibility for sporadic Parkinson's disease, and further functional studies are needed to understand how mutant CHCHD2 might play a part in the pathophysiology of Parkinson's disease.
|
25662902 |
2015 |