|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This cell line lacks the expression of all PARKIN isoforms and is valuable for elucidating the role of PARK2 mutations in PD.
|
31698191 |
2019 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
[Function of Parkin].
|
12138708 |
2002 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD.
|
11920285 |
2002 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Parkin, a RING-between-RING-type E3 ubiquitin ligase associated with Parkinson's disease, has a wide neuroprotective activity, preventing cell death in various stress paradigms.
|
23453807 |
2013 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Exon rearrangements in the PARK2 gene play a significant role in the pathogenesis of sporadic PD in Russian patients.
|
21915905 |
2012 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Parkin functions as a multipurpose E3 ubiquitin ligase, and Parkin loss of function is associated with both sporadic and familial Parkinson's disease (PD).
|
29987020 |
2018 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
|
12975291 |
2003 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Parkin, an E3 ubiquitin ligase, is the most frequently mutated gene in hereditary Parkinson's disease.
|
29138676 |
2017 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our study aimed at conducting screening for mutations in PARK2 in patients with a sporadic form of PD to clarify the role of PARK2 in the development of PD.
|
27798970 |
2017 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A subset of familial PD is linked to mutations in PARK2 and PINK1, which lead to dysfunctional mitochondria-related proteins Parkin and PINK1, suggesting that pathways implicated in these monogenic forms could play a more general role in PD.
|
27641647 |
2016 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.
|
23531835 |
2013 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
CTD_human |
Parkin protects human dopaminergic neuroblastoma cells against dopamine-induced apoptosis.
|
15198987 |
2004 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Parkin gene mutation testing was performed in young onset PD (diagnosed <50 years old) to identify three groups: Parkin homozygous or compound heterozygote mutation carriers, Parkin single heterozygote mutation carriers, and non-carriers of Parkin mutations.
|
26626018 |
2016 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The clinical relevance of our findings is substantiated by the discovery of homozygous PARKIN (<i>PARK2</i>) p.S65N mutations in two unrelated patients with PD.
|
30404819 |
2018 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Furthermore, we demonstrate that Nedd4, another E3 ubiquitin ligase that may have a role in PD, is functionally related to Sep4 and could be involved in regulating Sep4 subcellular localization/trafficking.
|
22562816 |
2012 |
|
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Analysis of PRKN by RT-PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals.
|
21322020 |
2011 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PARK2/Parkin, which encodes a ubiquitin E3 ligase, cause autosomal recessive Parkinson disease (PD).
|
20823226 |
2010 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia.
|
18486522 |
2009 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
From 102 patients, 40 with early-onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations.
|
15197707 |
2004 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Parkin is a ligase involved in ubiquitin-proteasome pathway and mutations in the parkin gene are the most common cause of recessive familial Parkinson's disease.
|
23146297 |
2012 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the present report we have screened a cohort of Parkinson disease patients (n = 57) and healthy controls (n = 51) from Nigeria for mutations in the genes PRKN, LRRK2 and ATXN3.
|
18927607 |
2008 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genes which have been implicated in autosomal-recessive PD include PARK2 which codes for parkin, an E3 ubiquitin ligase that participates in a variety of cellular activities.
|
25399302 |
2015 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The turnover of damaged mitochondria by mitophagy is initiated by the Parkinson disease-linked genes PRKN and PINK1, and we recently investigated the role that interorganellar contact sites between the endoplasmic reticulum (ER) and the outer mitochondrial membrane (OMM) play in this pathway.
|
30081712 |
2018 |
|
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
|
25939424 |
2015 |
|
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
TRIM9, a novel brain-specific E3 ubiquitin ligase, is repressed in the brain of Parkinson's disease and dementia with Lewy bodies.
|
20085810 |
2010 |