title: The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
abstract: Early onset Parkinson's disease can be caused by variants in the PINK1, Parkin, and DJ-1 genes. Since their initial discoveries, hundreds of variants have been found in these genes that are associated with a Parkinsonian phenotype. This review will briefly discuss the functions of the protein products of the three genes, then focus on the effects that disease associated variants have on these functions. We will also discuss how experimental findings can help decide whether individual variants are pathogenic or not.
authors.affiliation: Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, MD, United States.
authors.forename: David N
authors.initials: DN
authors.lastname: Hauser
authors.affiliation: Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, MD, United States.
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Primiani
authors.affiliation: Cell Biology and Gene Expression Section, NIA, Building 35, Room 1A116, 5 Convent Drive, MSC 3707, Bethesda, MD 20892-3707, United States.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Cookson
mesh_terms: D000818:Animals; D004331:Drosophila melanogaster / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression; D005808:Genes, Recessive; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D000071617:Protein Deglycase DJ-1 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D011494:Protein Kinases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017433:Protein Structure, Secondary; D044767:Ubiquitin-Protein Ligases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D000099202:PTEN-Induced Putative Kinase
chemical_list: D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C105131:PARK7 protein, human
keywords: DJ-1; PINK1; Variants; parkin; pathogenicity; phenotype