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Gene profile

PINK1

HGNC:14581 · SaudiVarKB evidence summary derived from retained literature mentions.

14Gene mentions
14Publications
4Linked variants
8Associated phenotypes

Associated phenotypes

Co-mentioned in PINK1 publications

Linked variants

Variants normalized to PINK1
VariantHGVS / rsIDArticlesMentions
c.1366C>Tc.1366C>T11
p.Gln456*p.Gln456*11
c.1597dupc.1597dup11
T313M11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Saudi Arabia21
Not specified1,3221
Saudi Arabia51
Not specified141

Supporting publications

14 records
  1. 2026Cardioprotective effects of 3-N-Butylphthalide in diabetic cardiomyopathy: focus on balanced mitochondrial dynamics and pyroptosis pathways.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of PharmacologyPubMed ↗
  2. 2026Dose-dependent neurotoxic effects of anastrozole via disrupting NLRP3 inflammasome and α-synuclein pathways.Tissue & cellPubMed ↗
  3. 2026Loss of PINK1 causes age-dependent mitochondrial trafficking deficits in nigrostriatal dopaminergic neurons via aberrant p38 MAPK activation.NPJ Parkinson's diseasePubMed ↗
  4. 2025Hyperoside flavonoids protect against malathion-induced mitochondrial toxicity in the differentiated SH-SY5Y cells.Naunyn-Schmiedeberg's archives of pharmacologyPubMed ↗
  5. 2025Computational association in parkinson's disease SNPs with brain structural and functional alterations.NeurogeneticsPubMed ↗
  6. 2024Repurposing the inhibitors of MMP-9 and SGLT-2 against ubiquitin specific protease 30 in Parkinson's disease: computational modelling studies.Journal of biomolecular structure & dynamicsPubMed ↗
  7. 2023Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.Movement disorders : official journal of the Movement Disorder SocietyPubMed ↗
  8. 2023Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.Parkinsonism & related disordersPubMed ↗
  9. 2023Gene Signals and SNPs Associated with Parkinson's Disease: A Nutrigenomics and Computational Prospective Insights.NeurosciencePubMed ↗
  10. 2022The Role of Mitochondrial Genes in Neurodegenerative Disorders.Current neuropharmacologyPubMed ↗
  11. 2018Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.Molecular genetics and metabolismPubMed ↗
  12. 2017Early-Onset Parkinsonism: Case Report and Review of the Literature.Pediatric neurologyPubMed ↗
  13. 2015Parkinson's Disease in Saudi Patients: A Genetic Study.PloS onePubMed ↗
  14. 2006T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.Archives of neurologyPubMed ↗