Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2 mutations cause early-onset Parkinson's disease (EO-PD).
|
31846738 |
2020 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2, an autosomal recessive gene, is the most common one referring to early-onset Parkinson disease (EOPD).
|
30702579 |
2019 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Parkin (PARK2), which encodes an E3 ubiquitin ligase implicated in mitophagy, are the most common cause of early-onset Parkinson's disease (EOPD).
|
30994895 |
2019 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A total of 97 patients including 52 SEOPD and 45 familial PD (FEOPD: 23; FLOPD: 22) were screened for variants in PRKN by PCR- Sanger sequencing.
|
31409571 |
2019 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene.
|
31386307 |
2019 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PARK2 (PRKN) gene are the most common cause of autosomal-recessive (AR) juvenile parkinsonism and young-onset Parkinson's disease (YOPD).
|
30099245 |
2018 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene (PRKN) are the most commonly identified genetic factors in early onset Parkinson disease (EOPD), with biallelic mutations, resulting in a clinical phenotype.
|
29577677 |
2018 |
Young onset Parkinson disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Both PINK1 and parkin are the responsible genes (PARK6 and PARK2, respectively) for familial early-onset Parkinson's disease (PD).
|
28361483 |
2018 |
Young onset Parkinson disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our findings support a model in which the PD-related E3 ubiquitin ligase Parkin directly participates in the selective regulation of the MCU complex regulator MICU1 and, indirectly, also of the MICU2 gatekeeper, thus indicating that Parkin loss of function could contribute to the impairment of the ability of mitochondria to handle Ca<sup>2+</sup> and consequently to the pathogenesis of PD.
|
30242232 |
2018 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Early-onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated.
|
30328284 |
2018 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in parkin (PARK2) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD).
|
28106473 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1).
|
27776828 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PINK1 and PARKIN are the most common causes of recessive early-onset Parkinson's disease (EOPD).
|
28438176 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson's Disease (EOPD).
|
28789629 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.
|
28830306 |
2017 |
Young onset Parkinson disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
The discovery of PARK2 as a cause of young-onset Parkinson's disease has had a major impact on other neurodegenerative diseases.
|
28620835 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.
|
28913705 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PINK1 and PARKIN cause neuronal death in early-onset Parkinson's disease (PD), thought to be due to mitochondrial dysfunction.
|
28211874 |
2017 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the present study, parkin-mutant human skin primary fibroblasts have been considered as cellular model of PD to investigate on possible lipid alterations associated with the lack of parkin protein.
|
28109117 |
2017 |
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in dementia with Lewy bodies.
|
26836416 |
2016 |
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
|
27182553 |
2016 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The frequency of EOPD-associated variations in the PRKN gene was 34%.
|
27455133 |
2016 |
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings.
|
26855076 |
2016 |
Young onset Parkinson disease
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.
|
27294386 |
2016 |
Young onset Parkinson disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome.
|
27592010 |
2016 |