################################################################################## # Document Properties Section SET DOCUMENT Name = "Document name" SET DOCUMENT Description = "Document description" SET DOCUMENT Version = "1.0" SET DOCUMENT Copyright = "Copyright (c) 2012, akodamullil. All Rights Reserved." SET DOCUMENT Authors = "akodamullil" SET DOCUMENT Licenses = "Document license" SET DOCUMENT ContactInfo = "your@email.com" ################################################################################## # Definitions Section DEFINE NAMESPACE PFR AS URL "http://resource.belframework.org/belframework/1.0/namespace/selventa-named-rat-protein-families.belns" DEFINE NAMESPACE MGI AS URL "http://resource.belframework.org/belframework/1.0/namespace/mgi-approved-symbols.belns" DEFINE NAMESPACE PFM AS URL "http://resource.belframework.org/belframework/1.0/namespace/selventa-named-mouse-protein-families.belns" DEFINE NAMESPACE MESHPP AS URL "http://resource.belframework.org/belframework/1.0/namespace/mesh-biological-processes.belns" DEFINE NAMESPACE MESHCL AS URL "http://resource.belframework.org/belframework/1.0/namespace/mesh-cellular-locations.belns" DEFINE NAMESPACE NCH AS URL "http://resource.belframework.org/belframework/1.0/namespace/selventa-named-human-complexes.belns" DEFINE NAMESPACE CHEBI AS URL "http://resource.belframework.org/belframework/1.0/namespace/chebi-names.belns" DEFINE NAMESPACE NCR AS URL "http://resource.belframework.org/belframework/1.0/namespace/selventa-named-rat-complexes.belns" DEFINE NAMESPACE HGNC AS URL "http://resource.belframework.org/belframework/1.0/namespace/hgnc-approved-symbols.belns" DEFINE NAMESPACE SPAC AS URL "http://resource.belframework.org/belframework/1.0/namespace/swissprot-accession-numbers.belns" DEFINE NAMESPACE PFH AS URL "http://resource.belframework.org/belframework/1.0/namespace/selventa-named-human-protein-families.belns" DEFINE NAMESPACE NCM AS URL "http://resource.belframework.org/belframework/1.0/namespace/selventa-named-mouse-complexes.belns" DEFINE NAMESPACE CHEBIID AS URL "http://resource.belframework.org/belframework/1.0/namespace/chebi-ids.belns" DEFINE NAMESPACE RGD AS URL "http://resource.belframework.org/belframework/1.0/namespace/rgd-approved-symbols.belns" DEFINE NAMESPACE MESHD AS URL 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"http://resource.belframework.org/belframework/1.0/annotation/mesh-hemic-and-immune-system.belanno" DEFINE ANNOTATION UrogenitalSystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-urogenital-system.belanno" DEFINE ANNOTATION FluidAndSecretion AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-fluid-and-secretion.belanno" DEFINE ANNOTATION CellStructure AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-cell-structure.belanno" DEFINE ANNOTATION CellLine AS URL "http://resource.belframework.org/belframework/1.0/annotation/atcc-cell-line.belanno" DEFINE ANNOTATION TextLocation AS LIST {"Abstract","Results","Legend","Review"} DEFINE ANNOTATION IntegumentarySystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-integumentary-system.belanno" DEFINE ANNOTATION DigestiveSystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-digestive-system.belanno" DEFINE ANNOTATION MuskuloskeletalSystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-musculoskeletal-system.belanno" DEFINE ANNOTATION Tissue AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-tissue.belanno" DEFINE ANNOTATION BodyRegion AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-body-region.belanno" DEFINE ANNOTATION Cell AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-cell.belanno" DEFINE ANNOTATION NervousSystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-nervous-system.belanno" DEFINE ANNOTATION SenseOrgan AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-sense-organ.belanno" DEFINE ANNOTATION Disease AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-disease.belanno" DEFINE ANNOTATION RespiratorySystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-respiratory-system.belanno" DEFINE ANNOTATION Species AS URL "http://resource.belframework.org/belframework/1.0/annotation/species-taxonomy-id.belanno" DEFINE ANNOTATION CardiovascularSystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-cardiovascular-system.belanno" DEFINE ANNOTATION EndocrineSystem AS URL "http://resource.belframework.org/belframework/1.0/annotation/mesh-endocrine-system.belanno" ################################################################################## # Statements Section SET STATEMENT_GROUP = "Group 1" # Add statements below this comment ######################## SET Citation={"PubMed","Rinsho Shinkeigaku. 2005 Nov;45(11):899-901.","21532868"} SET Evidence ="The deposition of alpha-synuclein (aS), a product of pathogenic gene for dominantly \ inherited familial Parkinson's disease (PD; park1), as fibrillary aggregates like Lewy bodies (LB), \ is a hallmark lesion of a set of neurodegenerative disorders termed synucleinopathies, including \ sporadic PD and dementia with Lewy bodies (DLB). We found that aS is the major component of LBs \ and further identified a specific phosphorylation of Ser129 of insoluble aS by mass spectrometric \ analysis. The roles of DJ-1 and PINK-1, products of pathogenic genes for autosomal recessive forms \ of early-onset parkinsonism, have subsequently been examined. Overexpression of DJ-1 conferred \ cultured cells resistance to oxidative stress, suggesting an antioxidant function of DJ-1. We \ also confirmed the anti-PTEN function of DJ-1 that may promote cell survival, showing decreased \ phosphorylation of Akt through upregulation of PTEN activity upon siRNA knockdown for DJ-1. PINK-1, \ that had been identified as a gene upregulated by PTEN overexpression, turned out to be a protein \ kinase localized in mitochondria. Collectively, information derived from studies on pathogenic \ genes for familial PD will open up the way toward the clarification of the pathogenesis of PD, \ underscoring the roles of protein aggregation, proteolysis, oxidative stress and protein \ phosphorylation in PD." p(HGNC:PARK7) -- path(MESHD:"Parkinson Disease") p(HGNC:PINK1) -- path(MESHD:"Parkinson Disease") p(HGNC:PARK7) -| bp(GO:"response to oxidative stress") p(HGNC:PARK7) -> bp(GO:"cytokine activity") ######################## SET Citation={"PubMed","Clin Genet. 2010 Feb;77(2):183-8. doi: 10.1111/j.1399-0004.2009.01310.x. Epub 2009 Nov 23.","19968671"} SET Evidence ="When we considered a three-marker sliding window, we found a highly significant association \ between the disease and the haplotypes including markers rs17523802, Ins/Del, and rs3766606 (p = 0.0007) \ and markers Ins/Del, rs3766606 and rs7517357 (p = 0.0054). Our results indicate that polymorphisms located \ in a region spanning 3535 bp from the promoter to the intron 2 of the DJ-1 gene confer risk to sporadic PD \ in southern Italy." g(HGNC:PARK7) -> p(HGNC:PARK7) g(HGNC:PARK7) -- g(dbSNP:rs17523802) g(HGNC:PARK7) -- g(dbSNP:rs3766606) g(HGNC:PARK7) -- g(dbSNP:rs7517357) g(dbSNP:rs17523802) -> path(MESHD:"Parkinson Disease") g(dbSNP:rs3766606) -> path(MESHD:"Parkinson Disease") g(dbSNP:rs7517357) -> path(MESHD:"Parkinson Disease") UNSET STATEMENT_GROUP

Jankovic, J. J. T. E., & Tolosa. (2007). Parkinson's disease and movement disorders. E. Tolosa (Ed.). Lippincott Williams & Wilkins.

PINK7

DJ-1