PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Finally, psychological distress robustly induced anxiety and Parkinsonian symptoms in WT rats and accelerated certain symptoms of PD in PINK1-KO rats. 31836946 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Genetic atypical Parkinson's disease (PD) describes monogenic forms of PD that resemble idiopathic PD but feature prominent atypical clinical signs and symptoms and can be sub-grouped into i) atypical monogenic forms caused by mutations in the ATP13A2, DNAJC6, FBXO7, SYNJ1, VPS13C, and DCTN genes; ii) monogenic PD more closely resembling idiopathic PD, but associated with atypical features in at least a subset of cases (SNCA-, LRRK2-, VPS35-, Parkin-, PINK1-, and DJ-1-linked PD; iii) carriers of mutations in genes that are usually associated with other movement disorders but may present with parkinsonism, such as dopa-responsive dystonia. 31779813 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Twenty-nine of 109 probands with autosomal-recessive inheritance of parkinsonism (26.6%) were found to carry mutations in Parkin, PINK1, GBA, or HTRA2. 30788857 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Mutation of hop-1 and pink-1 attenuates vulnerability of neurotoxicity in C. elegans: the role of mitochondria-associated membrane proteins in Parkinsonism. 30076829 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Mutations of PTEN-induced putative kinase 1 (PINK1) and the E3 ubiquitin (Ub) ligase parkin can cause familial parkinsonism. 29991771 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Familial Parkinsonism is associated with loss-of-function mutations in PINK1 and Parkin. 27593930 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE HTRA2 and PINK1 loss of function causes parkinsonism in humans and animals. 29050400 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE PINK1-type of early-onset parkinsonism can occur in very young patients, and phenotypic expression of PINK1 mutations may depend on age of onset and ethnicity. 28062148 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3). 29124790 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 PosttranslationalModification group BEFREE The present study suggests that Mn-induced alteration of DNA methylation of PINK1-PARK2 may influence mitochondrial function and promote Parkinsonism. 27913844 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism. 27413743 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. 25643588 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Loss-of-function mutation in PINK1 is known for causing autosomal recessive early onset Parkinsonism accounting approximately 6.5% of PD cases. 26282903 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Mutations in the PARK2 and PARK6 genes, coding for the cytosolic E3 ubiquitin protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1 [phosphatase and tensin homologue (PTEN)-induced putative kinase 1], lead to clinically similar early-onset Parkinsonian syndromes. 25849933 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group RGD Phenotypic characterization of recessive gene knockout rat models of Parkinson's disease. 24969022 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE We expanded the phenotypic profile of PINK1-related parkinsonism, including psychiatric and cognitive features as part of clinical presentation. 25164310 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group CTD_human Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. 24441527 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group CTD_human Downregulation of Pink1 influences mitochondrial fusion-fission machinery and sensitizes to neurotoxins in dopaminergic cells. 24792327 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE PINK1 (PTEN induced putative kinase 1) and PARKIN (also known as PARK2) have been identified as the causal genes responsible for hereditary recessive early-onset Parkinsonism. 24784582 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE The foot dystonia and gait disorders seen at disease onset in affected members of our family, which were accompanied by parkinsonism had a similar clinical presentation to what has been described in previous reports of PINK1 mutation carriers. 25226871 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE PINK1 and Parkin, the products of two genes responsible for autosomal recessive Parkinsonian syndromes with early onset, act as a quality control system on the outer mitochondrial membrane to preserve mitochondrial integrity. 23206589 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Recent evidence from studies on the genetic forms of parkinsonism with particular stress on DJ-1, parkin, and PINK-1 also suggest the involvement of mitochondria and oxidative stress. 23064436 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. 23462481 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics. 23063710 2013