MCID: PNK001
MIFTS: 10

Pink1 Type of Young-Onset Parkinson Disease

Aliases & Classifications for Pink1 Type of Young-Onset Parkinson Disease

MalaCards integrated aliases for Pink1 Type of Young-Onset Parkinson Disease:

Name: Pink1 Type of Young-Onset Parkinson Disease 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is age dependent but appears to be complete in individuals who have biallelic pink1 pathogenic variants.

Summaries for Pink1 Type of Young-Onset Parkinson Disease

MalaCards based summary : Pink1 Type of Young-Onset Parkinson Disease is related to parkinson disease, late-onset and parkinson disease 2, autosomal recessive juvenile. An important gene associated with Pink1 Type of Young-Onset Parkinson Disease is PINK1 (PTEN Induced Kinase 1). Affiliated tissues include brain and testes.

GeneReviews: NBK26472

Related Diseases for Pink1 Type of Young-Onset Parkinson Disease

Diseases related to Pink1 Type of Young-Onset Parkinson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 10.2
2 parkinson disease 2, autosomal recessive juvenile 10.2
3 parkinson disease 6, autosomal recessive early-onset 10.2
4 dystonia 10.2
5 tremor 10.2

Graphical network of the top 20 diseases related to Pink1 Type of Young-Onset Parkinson Disease:



Diseases related to Pink1 Type of Young-Onset Parkinson Disease

Symptoms & Phenotypes for Pink1 Type of Young-Onset Parkinson Disease

Drugs & Therapeutics for Pink1 Type of Young-Onset Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Pink1 Type of Young-Onset Parkinson Disease

Genetic Tests for Pink1 Type of Young-Onset Parkinson Disease

Anatomical Context for Pink1 Type of Young-Onset Parkinson Disease

MalaCards organs/tissues related to Pink1 Type of Young-Onset Parkinson Disease:

41
Brain, Testes

Publications for Pink1 Type of Young-Onset Parkinson Disease

Articles related to Pink1 Type of Young-Onset Parkinson Disease:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. 4
29644727 2018
2
LRRK2 Expression Is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1. 4
27975167 2018
3
Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency. 4
28137779 2017
4
PINK1 signaling in mitochondrial homeostasis and in aging (Review). 4
27959386 2017
5
Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers. 4
27843055 2017
6
Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation. 4
27641647 2016
7
Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice. 4
26916954 2016
8
Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers. 4
25545816 2015
9
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families. 4
25164310 2014
10
Ubiquitin is phosphorylated by PINK1 to activate parkin. 4
24784582 2014
11
PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. 4
24652937 2014
12
PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. 4
24167038 2014
13
Summary of the recommendations of the EFNS/MDS-ES review on therapeutic management of Parkinson's disease. 4
23279439 2013
14
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 4
23279440 2013
15
Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. 4
23212910 2013
16
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. 4
23935950 2013
17
The neuropathology of genetic Parkinson's disease. 4
22451330 2012
18
Vitamin K2 is a mitochondrial electron carrier that rescues pink1 deficiency. 4
22582012 2012
19
The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations. 4
23251494 2012
20
Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism. 4
21743139 2011
21
Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells. 4
21508222 2011
22
Parkinson-related genetics in patients treated with deep brain stimulation. 4
20545633 2011
23
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. 4
21408142 2011
24
Bioenergetic consequences of PINK1 mutations in Parkinson disease. 4
22043288 2011
25
Structural imaging in the presymptomatic stage of genetically determined parkinsonism. 4
20483373 2010
26
Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. 4
20508036 2010
27
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. 4
20558144 2010
28
Nonmotor symptoms in genetic Parkinson disease. 4
20558386 2010
29
Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. 4
20513816 2010
30
Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis. 4
20461815 2010
31
PINK1-linked parkinsonism is associated with Lewy body pathology. 4
20356854 2010
32
A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease. 4
19726410 2010
33
Evaluation of PINK1 variants in Indian Parkinson's disease patients. 4
19889566 2010
34
PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. 4
20126261 2010
35
PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. 4
19966284 2010
36
Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect. 4
19847793 2009
37
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. 4
19214605 2009
38
Parkinson's disease: from monogenic forms to genetic susceptibility factors. 4
19297401 2009
39
PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. 4
19285945 2009
40
Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. 4
19270741 2009
41
Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. 4
19025984 2008
42
[Case of a 30-year history of PARK6 --findings from functional imaging of the brain]. 4
19048950 2008
43
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. 4
18524835 2008
44
PINK1 mutations and parkinsonism. 4
18685134 2008
45
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. 4
18286320 2008
46
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. 4
18330912 2008
47
Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. 4
18378882 2008
48
Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. 4
17724286 2007
49
Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. 4
17141510 2007
50
PINK1 mutation heterozygosity and the risk of Parkinson's disease. 4
17172567 2007

Variations for Pink1 Type of Young-Onset Parkinson Disease

Expression for Pink1 Type of Young-Onset Parkinson Disease

Search GEO for disease gene expression data for Pink1 Type of Young-Onset Parkinson Disease.

Pathways for Pink1 Type of Young-Onset Parkinson Disease

GO Terms for Pink1 Type of Young-Onset Parkinson Disease

Sources for Pink1 Type of Young-Onset Parkinson Disease

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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