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 |
Biomarker
|
disease |
BEFREE |
PINK1 (PTEN-induced putative kinase 1) gene is the causal gene for recessive familial type 6 of Parkinson's disease (PARK6), which is an early-onset autosomal recessive inherited neurodegenerative disease.
|
29255601 |
2017 |
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
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 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
MGD |
Potentiation of neurotoxicity in double-mutant mice with Pink1 ablation and A53T-SNCA overexpression.
|
25296918 |
2015 |
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 |
Biomarker
|
disease |
CTD_human |
BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation.
|
24475098 |
2014 |
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Ubiquitin is phosphorylated by PINK1 to activate parkin.
|
24784582 |
2014 |
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 |
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 |
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 |
Biomarker
|
disease |
MGD |
Pink1-deficiency in mice impairs gait, olfaction and serotonergic innervation of the olfactory bulb.
|
22265660 |
2012 |
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Bioenergetic consequences of PINK1 mutations in Parkinson disease.
|
22043288 |
2011 |
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 |
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 |
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
|
19229105 |
2009 |
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
Biomarker
|
disease |
MGD |
Possibly in line with the PARK6 syndrome but in contrast to sporadic PD, a reduced lifespan, dysfunction of brainstem and sympathetic nerves, visible aggregates of alpha-synuclein within Lewy bodies or nigrostriatal neurodegeneration were not present in aged PINK1-deficient mice.
|
19492057 |
2009 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.
|
18286320 |
2008 |
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner.
|
18359116 |
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 |
CausalMutation
|
disease |
CLINVAR |
PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies.
|
17960343 |
2007 |