|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel PINK1 mutations in early-onset parkinsonism.
|
15349870 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
|
16401616 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism.
|
18524835 |
2008 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1.
|
17579517 |
2007 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.
|
16632486 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
MGD |
Increased mitochondrial calcium sensitivity and abnormal expression of innate immunity genes precede dopaminergic defects in Pink1-deficient mice.
|
21249202 |
2011 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies.
|
17960343 |
2007 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
|
16009891 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Bioenergetic consequences of PINK1 mutations in Parkinson disease.
|
22043288 |
2011 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
|
22956510 |
2012 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.
|
23303188 |
2013 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of PINK1 in Asian patients with familial parkinsonism.
|
16207217 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
CTD_human |
Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson's Disease from Mitochondrial Dysfunction and Cell Death.
|
27003823 |
2017 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.
|
17030667 |
2006 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Novel PINK1 mutations in early-onset parkinsonism.
|
15349870 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
|
18785233 |
2008 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.
|
15824318 |
2005 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.
|
24652937 |
2014 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
|
21996382 |
2012 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
PINK1 mutations are associated with sporadic early-onset parkinsonism.
|
15349860 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Novel PINK1 mutations in early-onset parkinsonism.
|
15349870 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.
|
20558144 |
2010 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.
|
20798600 |
2010 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
|
15087508 |
2004 |
|
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
CTD_human |
PARK6 mutant (G309D), (E417G) or (CΔ145) PINK1 failed to rescue mitochondrial dysfunction and inhibit oxidative stress in PINK1-deficient dopaminergic neurons.
|
21421046 |
2011 |