PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based on the fact that mutations in the PINK1 gene cause autosomal recessive juvenile parkinsonism, a number of mouse models with deletion of the PINK1 gene were generated.
|
31046796 |
2019 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results demonstrated that PINK1-Parkin-mediated mitophagy played a protective role in CI-AKI by reducing NLRP3 inflammasome activation.
|
31229841 |
2019 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
BEFREE |
Finally, we explored the role of PINK1/Parkin signaling in albumin-induced mitophagy by inhibiting mitophagy by knockdown of PARK2 (Parkin) level.
|
29494565 |
2018 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD).
|
29166608 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in PINK1 have been identified as a cause of early-onset autosomal recessive familial Parkinson's disease (PD).
|
28806787 |
2017 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1.
|
26864383 |
2016 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
CTD_human |
Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells.
|
26558463 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
CTD_human |
Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease.
|
24441527 |
2014 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
CTD_human |
Downregulation of Pink1 influences mitochondrial fusion-fission machinery and sensitizes to neurotoxins in dopaminergic cells.
|
24792327 |
2014 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
CTD_human |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.
|
23046578 |
2013 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed phosphorous ((31)P) and proton ((1)H) 3-T magnetic resonance spectroscopic imaging (MRSI) in 11 members of a German family with hereditary PD due to PINK1 mutations (PARK6) compared to 23 age-matched controls.
|
23251494 |
2012 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fortunately, our understanding of the pathogenesis of two types of recessive familial PDs--early-onset familial PD caused by dysfunction of the PTEN induced putative kinase 1 (PINK1) gene and autosomal recessive juvenile Parkinsonism (ARJP) caused by a mutation in the Parkin gene--has evolved and continues to expand.
|
20724841 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
CTD_human |
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.
|
15349871 |
2004 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PARK6 appears to be an important locus for ARJP in Europe.
|
12548371 |
2002 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.400 |
Biomarker
|
disease |
CTD_human |
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.
|
11254447 |
2001 |