Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Parkin protein are known to be associated with protein dysfunction leading to PD.
|
31647998 |
2020 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In rare cases PD is caused by mutations in the genes for PINK1 (PTEN induced kinase 1) or PRKN (parkin RBR E3 ubiquitin protein ligase), which impair the selective autophagic elimination of damaged mitochondria (mitophagy).
|
30945962 |
2020 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Parkin can function as a neuroprotector that plays a crucial role in the regulation of mitophagy, and germline mutations in PARK2 are associated with Parkinson's disease (PD).
|
31285534 |
2020 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide polymorphisms (PARK2: Ser167Asn (G>A) and Val380Leu (G>C); PARK7: IVS4 + 46G>A and IVS4 + 30T>G) in PD-related genes were examined to elucidate its relationship with concentration of serum elements and clinical symptoms of PD.
|
31512170 |
2020 |
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 |
BEFREE |
We observed that amino acids in Parkin targeted by nonsynonymous T1R-risk mutations were also enriched for mutations implicated in PD (<i>P</i> = 1.5 × 10<sup>-4</sup>).
|
31308240 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
An early-onset form of Parkinson's disease is associated with mutations in the PINK1 kinase and PRKN ubiquitin ligase genes<sup>3</sup>.
|
31316206 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PINK1 and PRKN/PARK2 contribute to the risk of Parkinson disease.
|
30252570 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Dysregulation of mitophagy, whereby damaged mitochondria are labeled for degradation by the mitochondrial kinase PINK1 and E3 ubiquitin ligase Parkin with phosphorylated ubiquitin chains (p-S65 ubiquitin), may contribute to neurodegeneration in Parkinson's disease.
|
31801089 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mitochondrial import efficiency was abnormally low in cells from patients with PINK1- and PARK2-linked Parkinson's disease and was restored by phosphomimetic ubiquitin in cells with residual Parkin activity.
|
31413265 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Twelve studies that compared the DBS response in different genetic forms of PD and non-mutated cases were found; mutations in PRKN, LRRK2 and GBA were the most common PD-related mutations.
|
30121162 |
2019 |
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Here, we sought to elucidate the mechanisms by which stress decreases parkin protein levels using cultured neuronal cells and the PD-relevant stressor, L-DOPA.
|
31406131 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Along with other novel genes and non-coding RNAs, a Parkinson's disease gene involved in dopamine regulation, PARK2, is associated with PTSD.
|
31594949 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The diagnostic accuracy of HMR4H<sub>LEHR</sub> was highest in patients with LB disorders (PARK1, iPD, DLB, iRBD; 89% to 97%) and lowest in those with PARK2, PARK8, PSP and MSA (65% to 76%), with an optimal HMR4H<sub>LEHR</sub> cut-off value of 1.72 for discriminating most patients with LB disorders including iPD and 1.40 for discriminating those with aggressive LB spectrum phenotypes (DLB, PARK1 and iRBD).
|
30324423 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
This supports the idea that there is a distinct clinical profile of PRKN and PINK1-related Parkinson's disease.
|
31324919 |
2019 |
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Ring finger protein 146 (RNF146) is an E3 ubiquitin ligase whose activity prevents poly (ADP-ribose) polymerase 1 (PARP1)-dependent neurodegeneration in Parkinson's disease (PD).
|
30974833 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Parkinson's disease (PD) in patients carrying mutations in the Parkin gene is frequently delayed.
|
31255538 |
2019 |
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Of interest are three genes, eEF1A1, CASK, and PSMD6 that are linked to PARK2 activity in the cell and thereby form attractive candidate genes for understanding PD.
|
29852216 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Strangely, only a single heterozygous mutation in PARK2 was found in a small minority of patients with PD, which has been reported quite rarely and is difficult to explain.
|
30702579 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We showed synergistic alterations in lysosomal functions and mitochondrial biogenesis, likely associated with a mitochondrial genetic defect, with a consequent block of mitochondrial turnover and occurrence of premature cellular senescence in PARK2-PD fibroblasts, suggesting that these alterations represent potential mechanisms contributing to the loss of dopaminergic neurons.
|
31091796 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
All of the changes observed in the brains of these Drosophila models of PD, in which mitochondrial ligases MUL1 and PARKIN do not function, may explain the mechanisms of some neurological and behavioural symptoms of PD.
|
31138137 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here we found that a E3 ubiquitin ligase Peli1 is dramatically induced only in the substantia nigra (SN) of the human and mouse PD brains.
|
31142803 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
The Parkinson disease-associated proteins PINK1 and PRKN coordinate the ubiquitination of mitochondrial outer membrane proteins to tag them either for degradation or for autophagic clearance of the mitochondrion.
|
30806158 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls.
|
31178336 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Parkin is an E3 ubiquitin ligase involved in Parkinson's disease (PD).
|
30074231 |
2019 |