PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the park2 gene, encoding the RING-inBetweenRING-RING E3 ubiquitin ligase parkin, cause 50% of autosomal recessive juvenile Parkinsonism cases.
|
23770917 |
2013 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
Biomarker
|
disease |
BEFREE |
PARK2 (PARKIN) is an E3 ubiquitin ligase involved in multiple signaling pathways and cellular processes.
|
24297497 |
2014 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Parkin functions as an E3 ubiquitin ligase, and loss of this ubiquitin ligase activity appears to be the mechanism underlying pathogenesis of AR-JP.
|
15503153 |
2004 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Parkin is an E3 ubiquitin ligase mutated in autosomal recessive juvenile Parkinson's disease.
|
22527713 |
2012 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Parkin is an E3 ubiquitin ligase whose mutations cause autosomal recessive juvenile Parkinson's disease (PD).
|
28254618 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although most PD cases are sporadic, several loci have been involved in the disease. parkin (PARK) is causative of autosomal recessive juvenile Parkinsonism (ARJP) and encodes an E3 ubiquitin ligase associated with proteasomal degradation.
|
22562816 |
2012 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The E3 ubiquitin ligase PARKIN (encoded by PARK2) and the protein kinase PINK1 (encoded by PARK6) are mutated in autosomal-recessive juvenile Parkinsonism (AR-JP) and work together in the disposal of damaged mitochondria by mitophagy.
|
26161729 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Parkin, a product of the causative gene of autosomal-recessive juvenile parkinsonism (AR-JP), is a RING-type E3 ubiquitin ligase and has an amino-terminal ubiquitin-like (Ubl) domain.
|
12634850 |
2003 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive juvenile Parkinsonism (AR-JP) is caused by mutations in a number of PARK genes, in particular the genes encoding the E3 ubiquitin ligase Parkin (PARK2, also known as PRKN) and its upstream protein kinase PINK1 (also known as PARK6).
|
29160309 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Clinical practice has shown that Parkin is the major causative gene found in an autosomal recessive juvenile parkinsonism (AR-JP) via Parkin mutations and that the Parkin protein is the core expression product of the Parkin gene, which itself belongs to an E3 ubiquitin ligase.
|
31753025 |
2019 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Parkin, an E3 ubiquitin ligase, was first identified as a gene implicated in autosomal recessive juvenile Parkinsonism, but several evidences indicate that Parkin is a tumor suppressor gene, involved in a variety of cancers.
|
29349575 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 100 primary colorectal carcinomas, we demonstrate by array comparative genomic hybridization (aCGH) that 33% show DNA copy number (DCN) loss involving PARK2, the gene encoding PARKIN, the E3 ubiquitin ligase whose deficiency is responsible for a form of autosomal recessive juvenile parkinsonism.
|
20696900 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the E3 ubiquitin ligase parkin (PARK2, also known as PRKN) and the protein kinase PINK1 (also known as PARK6) are linked to autosomal-recessive juvenile parkinsonism (AR-JP)<sup>1,2</sup>; at the cellular level, these mutations cause defects in mitophagy, the process that organizes the destruction of damaged mitochondria<sup>3,4</sup>.
|
29995846 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.100 |
Biomarker
|
disease |
BEFREE |
PARK2 (PARKIN) is an E3 ubiquitin ligase whose dysfunction has been associated with the progression of Parkinsonism and human malignancies, and its role in cancer remains to be explored.
|
25877876 |
2015 |