PINK1

Summary

Gene Symbol: PINK1
Description: PTEN induced putative kinase 1
Alias: BRPK, PARK6, serine/threonine-protein kinase PINK1, mitochondrial, PTEN-induced putative kinase protein 1, protein kinase BRPK
Species: human
Products:     PINK1

Top Publications

  1. Sandebring A, Thomas K, Beilina A, Van Der Brug M, Cleland M, Ahmad R, et al. Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. PLoS ONE. 2009;4:e5701 pubmed publisher
    PTEN-induced novel kinase 1 (PINK1) mutations are associated with autosomal recessive parkinsonism...
  2. Nuytemans K, Meeus B, Crosiers D, Brouwers N, Goossens D, Engelborghs S, et al. Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. Hum Mutat. 2009;30:1054-61 pubmed publisher
    The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, and LRRK2 to the genetic etiology of Parkinson disease (PD) is still unclear because most studies did not completely analyze ..
  3. Liu W, Vives Bauza C, Acin Perez R, Yamamoto A, Tan Y, Li Y, et al. PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease. PLoS ONE. 2009;4:e4597 pubmed publisher
    ..kinase 1 (PINK1), a mitochondrial Ser/Thr kinase, cause an autosomal recessive form of Parkinson's disease (PD), PARK6. Here, we report that PINK1 exists as a dimer in mitochondrial protein complexes that co-migrate with respiratory ..
  4. Cazeneuve C, Sân C, Ibrahim S, Mukhtar M, Kheir M, LeGuern E, et al. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics. 2009;10:265-70 pubmed publisher
    PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson's disease (EOPD)...
  5. Camargos S, Dornas L, Momeni P, Lees A, Hardy J, Singleton A, et al. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Mov Disord. 2009;24:662-6 pubmed publisher
    ..We performed a standardized clinical assessment of patients followed by sequencing of PRKN, PINK1 in EOPD cases and SNCA, LRRK2 in familial Parkinsonism individuals...
  6. Muqit M, Abou Sleiman P, Saurin A, Harvey K, Gandhi S, Deas E, et al. Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress. J Neurochem. 2006;98:156-69 pubmed
    Following our identification of PTEN-induced putative kinase 1 (PINK1) gene mutations in PARK6-linked Parkinson's disease (PD), we have recently reported that PINK1 protein localizes to Lewy bodies (LBs) in PD brains...
  7. Macedo M, Verbaan D, Fang Y, van Rooden S, Visser M, Anar B, et al. Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord. 2009;24:196-203 pubmed publisher
    Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1, PINK1, LRRK2, and SNCA genes...
  8. Abou Sleiman P, Muqit M, McDonald N, Yang Y, Gandhi S, Healy D, et al. A heterozygous effect for PINK1 mutations in Parkinson's disease?. Ann Neurol. 2006;60:414-9 pubmed
    To investigate the significance of PINK1 mutations in sporadic Parkinson's disease (PD). We determined the frequency of PINK1 mutations by direct sequencing in a large series of PD patients with apparently sporadic disease (n = 768)...
  9. Um J, Stichel Gunkel C, Lübbert H, Lee G, Chung K. Molecular interaction between parkin and PINK1 in mammalian neuronal cells. Mol Cell Neurosci. 2009;40:421-32 pubmed publisher
    ..Mutations in PTEN-induced putative kinase 1 (PINK1) and parkin are linked to early-onset autosomal recessive forms of familial PD...

More Information

Publications141 found, 100 shown here

  1. Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, et al. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Hum Mol Genet. 2010;19:3124-37 pubmed publisher
    Mutations in the PTEN-induced putative kinase 1 (PINK1), a mitochondrial serine-threonine kinase, and Parkin, an E3 ubiquitin ligase, are associated with autosomal-recessive forms of Parkinson disease (PD)...
  2. Hiller A, Hagenah J, Djarmati A, Hedrich K, Reetz K, Schneider Gold C, et al. Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. Mov Disord. 2007;22:145-7 pubmed
    The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations...
  3. Moro E, Volkmann J, Konig I, Winkler S, Hiller A, Hassin Baer S, et al. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology. 2008;70:1186-91 pubmed publisher
    ..disease onset at age <or= 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene...
  4. Xiong H, Wang D, Chen L, Choo Y, Ma H, Tang C, et al. Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. J Clin Invest. 2009;119:650-60 pubmed publisher
    Mutations in PARKIN, pten-induced putative kinase 1 (PINK1), and DJ-1 are individually linked to autosomal recessive early-onset familial forms of Parkinson disease (PD)...
  5. Cardona F, Sánchez Mut J, Dopazo H, Perez Tur J. Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1. Hum Mutat. 2011;32:369-78 pubmed publisher
    ..Mutations in PINK1 were shown to cause recessive familial PD, and today are proposed to be associated with the disease via ..
  6. Billia F, Hauck L, Konecny F, Rao V, Shen J, Mak T. PTEN-inducible kinase 1 (PINK1)/Park6 is indispensable for normal heart function. Proc Natl Acad Sci U S A. 2011;108:9572-7 pubmed publisher
    ..Mutations in PTEN-inducible kinase 1 (PINK1) link mitochondrial dysfunction, increased sensitivity to ROS, and apoptosis in Parkinson's disease...
  7. Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, et al. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Hum Mutat. 2007;28:98 pubmed
    ..While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes...
  8. Becker D, Richter J, Tocilescu M, Przedborski S, Voos W. Pink1 kinase and its membrane potential (Delta?)-dependent cleavage product both localize to outer mitochondrial membrane by unique targeting mode. J Biol Chem. 2012;287:22969-87 pubmed publisher
    The Parkinson disease-associated kinase Pink1 is targeted to mitochondria where it is thought to regulate mitochondrial quality control by promoting the selective autophagic removal of dysfunctional mitochondria...
  9. Grünewald A, Breedveld G, Lohmann Hedrich K, Rohé C, Konig I, Hagenah J, et al. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics. 2007;8:103-9 pubmed
    b>PINK1 gene mutations are a cause of recessively inherited, early-onset Parkinson's disease. In some patients, a single heterozygous mutation has been identified, including the recurrent c.1366C>T transition...
  10. Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, et al. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol. 2008;65:802-8 pubmed publisher
    To determine the frequency, distribution, and clinical features of Parkinson disease (PD) with PINK1 mutations. Retrospective clinical and genetic review. University hospital...
  11. Cui M, Tang X, Christian W, Yoon Y, Tieu K. Perturbations in mitochondrial dynamics induced by human mutant PINK1 can be rescued by the mitochondrial division inhibitor mdivi-1. J Biol Chem. 2010;285:11740-52 pubmed publisher
    Mutations in the mitochondrial encoded protein PTEN-induced putative kinase 1 (PINK1) cause autosomal recessive Parkinson disease (PD)...
  12. Leutenegger A, Salih M, Ibanez P, Mukhtar M, Lesage S, Arabi A, et al. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol. 2006;63:1257-61 pubmed
    Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism...
  13. Funayama M, Li Y, Tsoi T, Lam C, Ohi T, Yazawa S, et al. Familial Parkinsonism with digenic parkin and PINK1 mutations. Mov Disord. 2008;23:1461-5 pubmed publisher
    To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations...
  14. Myhre R, Steinkjer S, Stormyr A, Nilsen G, Abu Zayyad H, Horany K, et al. Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism. BMC Neurol. 2008;8:47 pubmed publisher
    ..occur, and when recessively inherited, cases are often explained by mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on exceptional occasions the DJ-1 (PARK7) or ATP13A2 (PARK9) gene...
  15. Wang X, Winter D, Ashrafi G, Schlehe J, Wong Y, Selkoe D, et al. PINK1 and Parkin target Miro for phosphorylation and degradation to arrest mitochondrial motility. Cell. 2011;147:893-906 pubmed publisher
    ..We report here that two Parkinson's disease proteins, the Ser/Thr kinase PINK1 and ubiquitin ligase Parkin, participate in this regulation by arresting mitochondrial movement...
  16. Bingol B, Tea J, Phu L, Reichelt M, Bakalarski C, Song Q, et al. The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy. Nature. 2014;510:370-5 pubmed publisher
    ..mitochondria, antagonizes mitophagy driven by the ubiquitin ligase parkin (also known as PARK2) and protein kinase PINK1, which are encoded by two genes associated with Parkinson's disease...
  17. Hoepken H, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, et al. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis. 2007;25:401-11 pubmed
    ..Genetic data demonstrated PARK6 to be caused by mutations in the protein PINK1, which is localized to mitochondria and has a serine-threonine kinase domain...
  18. Zheng X, Hunter T. Parkin mitochondrial translocation is achieved through a novel catalytic activity coupled mechanism. Cell Res. 2013;23:886-97 pubmed publisher
    b>Pink1, a mitochondrial kinase, and Parkin, an E3 ubiquitin ligase, function in mitochondrial maintenance...
  19. Gegg M, Cooper J, Chau K, Rojo M, Schapira A, Taanman J. Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet. 2010;19:4861-70 pubmed publisher
    ..Mutations in the Parkin and PINK1 genes are a cause of familial PD...
  20. Nakajima A, Kataoka K, Hong M, Sakaguchi M, Huh N. BRPK, a novel protein kinase showing increased expression in mouse cancer cell lines with higher metastatic potential. Cancer Lett. 2003;201:195-201 pubmed
    A novel protein kinase named BRPK was isolated and partially characterized. BRPK was expressed at a higher level in three carcinoma cell lines with higher metastatic potential...
  21. Shi G, Lee J, Grimes D, Racacho L, Ye D, Yang H, et al. Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease. Hum Mol Genet. 2011;20:1966-74 pubmed publisher
    ..Mutations in PTEN-induced kinase-1 (PINK1), which encodes a mitochondrial kinase, and PARKIN, encoding an E3 ubiquitin ligase, are the most frequent causes ..
  22. Toft M, Myhre R, Pielsticker L, White L, Aasly J, Farrer M. PINK1 mutation heterozygosity and the risk of Parkinson's disease. J Neurol Neurosurg Psychiatry. 2007;78:82-4 pubmed
    Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP). A total of 131 Norwegian patients diagnosed with Parkinson's disease were included...
  23. Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, et al. 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. J Biol Chem. 2013;288:2223-37 pubmed publisher
    Mutations in the E3 ubiquitin ligase Parkin and the mitochondrial PTEN-induced putative kinase 1 (PINK1) have been identified to cause autosomal recessive forms of familial Parkinson disease, with PINK1 functioning upstream of Parkin in ..
  24. Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, et al. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet. 2005;13:1086-93 pubmed
    Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of onset: 43.2+/-5...
  25. Berthier A, Navarro S, Jiménez Sáinz J, Roglá I, Ripoll F, Cervera J, et al. PINK1 displays tissue-specific subcellular location and regulates apoptosis and cell growth in breast cancer cells. Hum Pathol. 2011;42:75-87 pubmed publisher
    The PINK1 gene is mutated in the germ line of patients with hereditary early-onset Parkinson disease, and PINK1 prosurvival function at neuronal mitochondria has been related with the etiology of this disease...
  26. Grunewald A, Gegg M, Taanman J, King R, Kock N, Klein C, et al. Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. Exp Neurol. 2009;219:266-73 pubmed publisher
    Mutations of the PINK1 gene are a cause of autosomal recessive Parkinson's disease (PD). PINK1 encodes a mitochondrial kinase of unknown function which is widely expressed in both neuronal and non-neuronal cells...
  27. Schlitter A, Kurz M, Larsen J, Woitalla D, Mueller T, Epplen J, et al. Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations. J Negat Results Biomed. 2005;4:10 pubmed
    Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the PINK1 (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism...
  28. Pridgeon J, Olzmann J, Chin L, Li L. PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. PLoS Biol. 2007;5:e172 pubmed
    Mutations in the PTEN induced putative kinase 1 (PINK1) gene cause an autosomal recessive form of Parkinson disease (PD)...
  29. Lin W, Kang U. Characterization of PINK1 processing, stability, and subcellular localization. J Neurochem. 2008;106:464-74 pubmed publisher
    Mutations found in PTEN-induced putative kinase 1 (PINK1), a putative mitochondrial serine/threonine kinase of unknown function, have been linked to autosomal recessive Parkinson's disease...
  30. Plun Favreau H, Klupsch K, Moisoi N, Gandhi S, Kjaer S, Frith D, et al. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat Cell Biol. 2007;9:1243-52 pubmed
    ..Mutations in PINK1, a putative mitochondrial protein kinase, are associated with the PARK6 autosomal recessive locus for susceptibility to early-onset Parkinson's disease...
  31. Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, et al. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. Mov Disord. 2008;23:881-5 pubmed publisher
    Homozygous or compound heterozygous mutations in the PINK1 gene represent the second most frequent cause of autosomal recessive parkinsonism after Parkin...
  32. Springer W, Kahle P. Regulation of PINK1-Parkin-mediated mitophagy. Autophagy. 2011;7:266-78 pubmed
    ..Thereby, PINK1 and Parkin physically associate and functionally cooperate to identify and label damaged mitochondria for ..
  33. Deng H, Le W, Shahed J, Xie W, Jankovic J. Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families. Neurosci Lett. 2008;430:18-22 pubmed
    Mutations in the parkin gene and the PTEN-induced putative kinase 1 gene (PINK1) have been identified as the most common causes of autosomal recessive early-onset Parkinson disease (EOPD)...
  34. Matsuda N, Sato S, Shiba K, Okatsu K, Saisho K, Gautier C, et al. PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol. 2010;189:211-21 pubmed publisher
    ..Recent identification of genes linked to familial forms of PD such as Parkin and PINK1 (PTEN-induced putative kinase 1) has revealed that ubiquitylation and mitochondrial integrity are key factors in ..
  35. Greene A, Grenier K, Aguileta M, Muise S, Farazifard R, Haque M, et al. Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment. EMBO Rep. 2012;13:378-85 pubmed publisher
    Mutations in phosphatase and tensin homologue-induced kinase 1 (PINK1) cause recessively inherited Parkinson's disease (PD), a neurodegenerative disorder linked to mitochondrial dysfunction...
  36. Eggers C, Schmidt A, Hagenah J, Bruggemann N, Klein J, Tadic V, et al. Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. Neurology. 2010;74:1798-805 pubmed publisher
    While homozygous mutations in the PINK1 gene cause recessively inherited early-onset Parkinson disease (PD), heterozygous mutations have been suggested as a susceptibility factor...
  37. Matenia D, Hempp C, Timm T, Eikhof A, Mandelkow E. Microtubule affinity-regulating kinase 2 (MARK2) turns on phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1) at Thr-313, a mutation site in Parkinson disease: effects on mitochondrial transport. J Biol Chem. 2012;287:8174-86 pubmed publisher
    ..In search of interaction partners of MARK2, we identified phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1), which is important for the survival of neurons and whose mutations are linked to familial Parkinson disease (PD)...
  38. Okatsu K, Uno M, Koyano F, Go E, Kimura M, Oka T, et al. A dimeric PINK1-containing complex on depolarized mitochondria stimulates Parkin recruitment. J Biol Chem. 2013;288:36372-84 pubmed publisher
    Parkinsonism typified by sporadic Parkinson disease is a prevalent neurodegenerative disease. Mutations in PINK1 (PTEN-induced putative kinase 1), a mitochondrial Ser/Thr protein kinase, or PARKIN, a ubiquitin-protein ligase, cause ..
  39. Takatori S, Ito G, Iwatsubo T. Cytoplasmic localization and proteasomal degradation of N-terminally cleaved form of PINK1. Neurosci Lett. 2008;430:13-7 pubmed
    Mutations in PTEN-induced putative kinase 1 (PINK1) gene have been linked to an autosomal recessive form of familial Parkinson's disease. PINK1 encodes a predicted mitochondrial protein kinase...
  40. Okatsu K, Oka T, Iguchi M, Imamura K, Kosako H, Tani N, et al. PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria. Nat Commun. 2012;3:1016 pubmed publisher
    Dysfunction of PINK1, a mitochondrial Ser/Thr kinase, causes familial Parkinson's disease (PD)...
  41. Klinkenberg M, Thurow N, Gispert S, Ricciardi F, Eich F, Prehn J, et al. Enhanced vulnerability of PARK6 patient skin fibroblasts to apoptosis induced by proteasomal stress. Neuroscience. 2010;166:422-34 pubmed publisher
    Proteasomal dysfunction and apoptosis are major hallmarks in the pathophysiology of Parkinson's disease (PD). PARK6 which is caused by mutations in the mitochondrial protein kinase PINK1 is a rare autosomal-recessively inherited disorder ..
  42. Khan N, Valente E, Bentivoglio A, Wood N, Albanese A, Brooks D, et al. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol. 2002;52:849-53 pubmed
    b>PARK6, a locus for early-onset recessive parkinsonism, has been causally implicated in nine unrelated families from four different countries...
  43. Murata H, Sakaguchi M, Jin Y, Sakaguchi Y, Futami J, Yamada H, et al. A new cytosolic pathway from a Parkinson disease-associated kinase, BRPK/PINK1: activation of AKT via mTORC2. J Biol Chem. 2011;286:7182-9 pubmed publisher
    ..Functional loss of a familial Parkinson disease-linked gene, BRPK/PINK1 (PINK1), results in deterioration of mitochondrial functions and eventual neuronal cell death...
  44. Trempe J, Fon E. Structure and Function of Parkin, PINK1, and DJ-1, the Three Musketeers of Neuroprotection. Front Neurol. 2013;4:38 pubmed publisher
    Autosomal recessive forms of Parkinson's disease are caused by mutations in three genes: Parkin, PINK1, and DJ-1. These genes encode for proteins with distinct enzymatic activities that may work together to confer neuroprotection...
  45. Paisan Ruiz C, Lang A, Kawarai T, Sato C, Salehi Rad S, Fisman G, et al. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology. 2005;65:696-700 pubmed
    In addition to the four well-confirmed genes linked to early-onset Parkinson disease (PD) (SNCA, PARKIN, DJ-1, and PINK1), mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have recently been identified in families with ..
  46. Narendra D, Wang C, Youle R, Walker J. PINK1 rendered temperature sensitive by disease-associated and engineered mutations. Hum Mol Genet. 2013;22:2572-89 pubmed publisher
    Mutations in Parkin or PINK1 are the most common cause of recessively inherited parkinsonism...
  47. Mellick G, Siebert G, Funayama M, Buchanan D, Li Y, Imamichi Y, et al. Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. Parkinsonism Relat Disord. 2009;15:105-9 pubmed publisher
    ..The entire coding region of the PRKN (MIM 602544), DJ-1 (MIM 602533) and PINK1 (MIM 698309) genes, and exon 41 of the LRRK2 gene (MIM 609007) were screened by direct sequencing...
  48. Guo J, Xiao B, Liao B, Zhang X, Nie L, Zhang Y, et al. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. Mov Disord. 2008;23:2074-9 pubmed publisher
    Autosomal recessive early-onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ-1, and ATP13A2 genes...
  49. Weihofen A, Thomas K, Ostaszewski B, Cookson M, Selkoe D. Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial trafficking. Biochemistry. 2009;48:2045-52 pubmed publisher
    Recessive mutations in Pink1 lead to a selective degeneration of dopaminergic neurons in the substantia nigra that is characteristic of Parkinson disease...
  50. Kondapalli C, Kazlauskaite A, Zhang N, Woodroof H, Campbell D, Gourlay R, et al. PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65. Open Biol. 2012;2:120080 pubmed publisher
    Missense mutations in PTEN-induced kinase 1 (PINK1) cause autosomal-recessive inherited Parkinson's disease (PD)...
  51. Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, et al. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?. Arch Neurol. 2006;63:833-8 pubmed
    Although homozygous mutations in the PTEN-induced putative kinase 1 (PINK1) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear...
  52. Abramov A, Gegg M, Grünewald A, Wood N, Klein C, Schapira A. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS ONE. 2011;6:e25622 pubmed publisher
    Mutations of the gene for PTEN-induced kinase 1 (PINK1) are a cause of familial Parkinson's disease (PD). PINK1 protein has been localised to mitochondria and PINK1 gene knockout models exhibit abnormal mitochondrial function...
  53. Geisler S, Holmström K, Skujat D, Fiesel F, Rothfuss O, Kahle P, et al. PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol. 2010;12:119-31 pubmed publisher
    Parkinson's disease is the most common neurodegenerative movement disorder. Mutations in PINK1 and PARKIN are the most frequent causes of recessive Parkinson's disease...
  54. Song S, Jang S, Park J, Bang S, Choi S, Kwon K, et al. Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila. J Biol Chem. 2013;288:5660-72 pubmed publisher
    Mutations in PINK1 (PTEN-induced putative kinase 1) are tightly linked to autosomal recessive Parkinson disease (PD)...
  55. Mills R, Sim C, Mok S, Mulhern T, Culvenor J, Cheng H. Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1). J Neurochem. 2008;105:18-33 pubmed publisher
    Mutations in PTEN-induced kinase 1 (PINK1) gene cause PARK6 familial Parkinsonism...
  56. Deas E, Plun Favreau H, Gandhi S, Desmond H, Kjaer S, Loh S, et al. PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet. 2011;20:867-79 pubmed publisher
    Mutations in PTEN-induced kinase 1 (PINK1) cause early onset autosomal recessive Parkinson's disease (PD). PINK1 is a 63 kDa protein kinase, which exerts a neuroprotective function and is known to localize to mitochondria...
  57. Lazarou M, Jin S, Kane L, Youle R. Role of PINK1 binding to the TOM complex and alternate intracellular membranes in recruitment and activation of the E3 ligase Parkin. Dev Cell. 2012;22:320-33 pubmed publisher
    Mutations in the mitochondrial kinase PINK1 and the cytosolic E3 ligase Parkin can cause Parkinson's disease...
  58. Valente E, Bentivoglio A, Dixon P, Ferraris A, Ialongo T, Frontali M, et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet. 2001;68:895-900 pubmed
    ..5 cM on the short arm of chromosome 1. This region contains a novel locus for autosomal recessive early-onset parkinsonism, PARK6. A maximum LOD score 4.01 at recombination fraction .00 was obtained for marker D1S199.
  59. Reetz K, Lencer R, Steinlechner S, Gaser C, Hagenah J, Buchel C, et al. Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers. Biol Psychiatry. 2008;64:241-7 pubmed publisher
    Mutations in the PINK1 gene can cause Parkinson's disease and are frequently associated with psychiatric symptoms that might even precede motor signs...
  60. Prestel J, Gempel K, Hauser T, Schweitzer K, Prokisch H, Ahting U, et al. Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J Neurol. 2008;255:643-8 pubmed publisher
    Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism...
  61. Samaranch L, Lorenzo Betancor O, Arbelo J, Ferrer I, Lorenzo E, Irigoyen J, et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain. 2010;133:1128-42 pubmed publisher
  62. Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, et al. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat. 2008;29:565 pubmed publisher
    Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls...
  63. Clark I, Dodson M, Jiang C, Cao J, Huh J, Seol J, et al. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature. 2006;441:1162-6 pubmed
    ..mediating familial forms of Parkinson's disease have been identified, including PTEN-induced kinase 1 (PINK1; PARK6) and parkin (PARK2), which are also associated with sporadic forms of Parkinson's disease...
  64. Gegg M, Cooper J, Schapira A, Taanman J. Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. PLoS ONE. 2009;4:e4756 pubmed publisher
    ..The identification of mutations in the PINK1 gene, which cause an autosomal recessive form of PD, has supported mitochondrial involvement in PD...
  65. Kawajiri S, Saiki S, Sato S, Sato F, Hatano T, Eguchi H, et al. PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy. FEBS Lett. 2010;584:1073-9 pubmed publisher
    Mutations in PTEN-induced putative kinase 1 (PINK1) cause recessive form of Parkinson's disease (PD). PINK1 acts upstream of parkin, regulating mitochondrial integrity and functions...
  66. Deng H, Le W, Zhang X, Pan T, Jankovic J. G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. Acta Neurol Scand. 2005;111:351-2 pubmed
    To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD)...
  67. Weng Y, Chou Y, Wu W, Lin K, Chang H, Yen T, et al. PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies. J Neurol. 2007;254:1347-55 pubmed
    The PINK1 gene mutation is probably the second most common genetic cause of early-onset Parkinson's disease (EOPD). The frequency and the characteristics of the PINK1 mutation in the Taiwanese population are unknown...
  68. Beilina A, Van Der Brug M, Ahmad R, Kesavapany S, Miller D, Petsko G, et al. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci U S A. 2005;102:5703-8 pubmed
    Several mutations in PTEN-induced putative kinase 1 (PINK1) gene have been reported to be associated with recessive parkinsonism. The encoded protein is predicted to be a Ser/Thr protein kinase targeted to mitochondria...
  69. Bertolin G, Ferrando Miguel R, Jacoupy M, Traver S, Grenier K, Greene A, et al. The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance. Autophagy. 2013;9:1801-17 pubmed publisher
    Loss-of-function mutations in PARK2/PARKIN and PINK1 cause early-onset autosomal recessive Parkinson disease (PD)...
  70. Meissner C, Lorenz H, Weihofen A, Selkoe D, Lemberg M. The mitochondrial intramembrane protease PARL cleaves human Pink1 to regulate Pink1 trafficking. J Neurochem. 2011;117:856-67 pubmed publisher
    ..Here, we show that PARL cleaves human Pink1, which is implicated in Parkinson's disease, within its conserved membrane anchor...
  71. Piccoli C, Ripoli M, Quarato G, Scrima R, D Aprile A, Boffoli D, et al. Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. J Med Genet. 2008;45:596-602 pubmed publisher
    ..W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism...
  72. Vives Bauza C, Zhou C, Huang Y, Cui M, de Vries R, Kim J, et al. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. Proc Natl Acad Sci U S A. 2010;107:378-83 pubmed publisher
    Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1) and PARK2/Parkin mutations cause autosomal recessive forms of Parkinson's disease...
  73. Deng H, Jankovic J, Guo Y, Xie W, Le W. Small interfering RNA targeting the PINK1 induces apoptosis in dopaminergic cells SH-SY5Y. Biochem Biophys Res Commun. 2005;337:1133-8 pubmed
    PTEN-induced kinase 1 (PINK1) is a recently identified gene, mutations of which cause levodopa-responsive parkinsonism. An over-expression of wild-type PINK1 protects neurons from stress-induced mitochondrial dysfunction and apoptosis...
  74. Kamp F, Exner N, Lutz A, Wender N, Hegermann J, Brunner B, et al. Inhibition of mitochondrial fusion by ?-synuclein is rescued by PINK1, Parkin and DJ-1. EMBO J. 2010;29:3571-89 pubmed publisher
    ..Finally, mitochondrial fragmentation induced by expression of ?S is rescued by coexpression of PINK1, parkin or DJ-1 but not the PD-associated mutations PINK1 G309D and parkin ?1-79 or by DJ-1 C106A.
  75. Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M, et al. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. J Biol Chem. 2005;280:34025-32 pubmed
    Mutations in the PTEN-induced kinase 1 (PINK1) gene have recently been implicated in autosomal recessive early onset Parkinson Disease (1, 2)...
  76. Wang F, Feng X, Ma J, Zou H, Chan P. A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese. Neurosci Lett. 2006;410:121-5 pubmed
    ..Recent studies have demonstrated that mutations in PINK1 (PARK6 locus) gene, encoding PTEN-induced kinase 1, are associated with both familial recessive and sporadic early ..
  77. Plun Favreau H, Gandhi S, Wood Kaczmar A, Deas E, Yao Z, Wood N. What have PINK1 and HtrA2 genes told us about the role of mitochondria in Parkinson's disease?. Ann N Y Acad Sci. 2008;1147:30-6 pubmed publisher
    ..Mutations in PINK1 are associated with the PARK6 autosomal recessive, early-onset, PD-susceptibility locus...
  78. Mei Y, Zhang Y, Yamamoto K, Xie W, Mak T, You H. FOXO3a-dependent regulation of Pink1 (Park6) mediates survival signaling in response to cytokine deprivation. Proc Natl Acad Sci U S A. 2009;106:5153-8 pubmed publisher
    ..of phosphatase/tensin homolog deleted on chromosome 10 (PTEN)-induced putative kinase 1 (Pink1) (also known as Park6) identified in familial forms of Parkinson's disease (PD) are associated with compromised mitochondrial function...
  79. Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010;31:763-80 pubmed publisher
    ..with familial Parkinson disease; alpha-synuclein (SNCA), parkin (PARK2), PTEN-induced putative kinase 1 (PINK1), DJ-1 (PARK7), and Leucine-rich repeat kinase 2 (LRRK2)...
  80. Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi Rad S, St George Hyslop P, et al. Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients. Mov Disord. 2006;21:875-9 pubmed
    The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated...
  81. Tang B, Xiong H, Sun P, Zhang Y, Wang D, Hu Z, et al. Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. Hum Mol Genet. 2006;15:1816-25 pubmed
    Mutations in genes encoding both DJ-1 and pten-induced kinase 1 (PINK1) are independently linked to autosomal recessive early-onset familial forms of Parkinson's disease (PD)...
  82. Pilsl A, Winklhofer K. Parkin, PINK1 and mitochondrial integrity: emerging concepts of mitochondrial dysfunction in Parkinson's disease. Acta Neuropathol. 2012;123:173-88 pubmed publisher
    ..Studies on the function of parkin and PINK1, which are associated with autosomal recessive parkinsonism, provided compelling evidence that these proteins can ..
  83. Valente E, Brancati F, Caputo V, Graham E, Davis M, Ferraris A, et al. PARK6 is a common cause of familial parkinsonism. Neurol Sci. 2002;23 Suppl 2:S117-8 pubmed
    ..We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries...
  84. Valente E, Salvi S, Ialongo T, Marongiu R, Elia A, Caputo V, et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol. 2004;56:336-41 pubmed
    ..mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus...
  85. Weihofen A, Ostaszewski B, Minami Y, Selkoe D. Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1. Hum Mol Genet. 2008;17:602-16 pubmed
    Mutations in the ubiquitously expressed gene PTEN-induced kinase 1 (Pink1) cause autosomal recessive Parkinson's disease. Pink1 encodes a putative serine/threonine kinase with an N-terminal mitochondrial targeting sequence...
  86. Wood Kaczmar A, Gandhi S, Yao Z, Abramov A, Abramov A, Miljan E, et al. PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons. PLoS ONE. 2008;3:e2455 pubmed publisher
    ..Although the pathogenesis of sporadic PD is unknown, the identification of the mendelian genetic factor PINK1 has provided new mechanistic insights...
  87. Gandhi S, Wood Kaczmar A, Yao Z, Plun Favreau H, Deas E, Klupsch K, et al. PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell. 2009;33:627-38 pubmed publisher
    Mutations in PINK1 cause autosomal recessive Parkinson's disease. PINK1 is a mitochondrial kinase of unknown function. We investigated calcium homeostasis and mitochondrial function in PINK1-deficient mammalian neurons...
  88. Sha D, Chin L, Li L. Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-kappaB signaling. Hum Mol Genet. 2010;19:352-63 pubmed publisher
    Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between ..
  89. Valente E, Abou Sleiman P, Caputo V, Muqit M, Harvey K, Gispert S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004;304:1158-60 pubmed
    ..Here we show that mutations in PINK1 (PTEN-induced kinase 1) are associated with PARK6...
  90. Groen J, Kawarai T, Toulina A, Rivoiro C, Salehi Rad S, Sato C, et al. Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Neurosci Lett. 2004;372:226-9 pubmed
    ..In addition to three well-confirmed PD genes (SNCA, parkin and DJ-1), mutations in the PTEN Induced Kinase (PINK1) gene have recently been identified in families with recessive early onset PD...
  91. Bandopadhyay R, Kingsbury A, Muqit M, Harvey K, Reid A, Kilford L, et al. Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. Neurobiol Dis. 2005;20:401-11 pubmed
    ..We confirm that synphilin-1 and parkin are components of majority of LBs in Parkinson's disease and that both proteins are susceptible to proteasomal degradation. ..
  92. Tan E, Yew K, Chua E, Puvan K, Shen H, Lee E, et al. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord. 2006;21:789-93 pubmed
    Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin...