Parkinsons Disease Pathway (Homo sapiens)

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Most people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations in specific genes have been conclusively shown to cause PD. These genes code for alpha-synuclein (SNCA), parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2 or dardarin), PTEN-induced putative kinase 1 (PINK1), DJ-1 and ATP13A2.[4][22] In most cases, people with these mutations will develop PD. With the exception of LRRK2, however, they account for only a small minority of cases of PD.[4] The most extensively studied PD-related genes are SNCA and LRRK2. Mutations in genes including SNCA, LRRK2 and glucocerebrosidase (GBA) have been found to be risk factors for sporadic PD. The role of the SNCA gene is important in PD because the alpha-synuclein protein is the main component of Lewy bodies.[22] Missense mutations of the gene (in which a single nucleotide is changed), and duplications and triplications of the locus containing it have been found in different groups with familial PD. Mutations in LRRK2 are the most common known cause of familial and sporadic PD, accounting for approximately 5% of individuals with a family history of the disease and 3% of sporadic cases.


Sources: wikipedia, Quigen, and KEGG.

Ontology Tags

 

Bibliography

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  1. Ren Y, Zhao J, Feng J; ''Parkin binds to alpha/beta tubulin and increases their ubiquitination and degradation.''; J Neurosci, 2003 PubMed
  2. Vila M, Ramonet D, Perier C; ''Mitochondrial alterations in Parkinson's disease: new clues.''; J Neurochem, 2008 PubMed
  3. Cookson MR; ''The biochemistry of Parkinson's disease.''; Annu Rev Biochem, 2005 PubMed
  4. Sidhu A, Wersinger C, Vernier P; ''Does alpha-synuclein modulate dopaminergic synaptic content and tone at the synapse?''; FASEB J, 2004 PubMed
  5. Thomas B, Beal MF; ''Parkinson's disease.''; Hum Mol Genet, 2007 PubMed
  6. Hattori N; ''[The gene products for familial Parkinson's disease provide us hints to elucidate the mechanisms of nigral degeneration].''; Rinsho Shinkeigaku, 2004 PubMed
  7. Machida Y, Chiba T, Takayanagi A, Tanaka Y, Asanuma M, Ogawa N, Koyama A, Iwatsubo T, Ito S, Jansen PH, Shimizu N, Tanaka K, Mizuno Y, Hattori N; ''Common anti-apoptotic roles of parkin and alpha-synuclein in human dopaminergic cells.''; Biochem Biophys Res Commun, 2005 PubMed
  8. Mizuno Y, Hattori N, Kubo S, Sato S, Nishioka K, Hatano T, Tomiyama H, Funayama M, Machida Y, Mochizuki H; ''Progress in the pathogenesis and genetics of Parkinson's disease.''; Philos Trans R Soc Lond B Biol Sci, 2008 PubMed
  9. Abou-Sleiman PM, Muqit MM, Wood NW; ''Expanding insights of mitochondrial dysfunction in Parkinson's disease.''; Nat Rev Neurosci, 2006 PubMed
  10. Vila M, Przedborski S; ''Targeting programmed cell death in neurodegenerative diseases.''; Nat Rev Neurosci, 2003 PubMed
  11. Kahle PJ, Haass C; ''How does parkin ligate ubiquitin to Parkinson's disease?''; EMBO Rep, 2004 PubMed
  12. Staropoli JF, McDermott C, Martinat C, Schulman B, Demireva E, Abeliovich A; ''Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity.''; Neuron, 2003 PubMed
  13. Singleton A; ''What does PINK1 mean for Parkinson diseases?''; Neurology, 2004 PubMed
  14. Abou-Sleiman PM, Healy DG, Wood NW; ''Causes of Parkinson's disease: genetics of DJ-1.''; Cell Tissue Res, 2004 PubMed
  15. Corti O, Hampe C, Koutnikova H, Darios F, Jacquier S, Prigent A, Robinson JC, Pradier L, Ruberg M, Mirande M, Hirsch E, Rooney T, Fournier A, Brice A; ''The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.''; Hum Mol Genet, 2003 PubMed
  16. Moore DJ, West AB, Dawson VL, Dawson TM; ''Molecular pathophysiology of Parkinson's disease.''; Annu Rev Neurosci, 2005 PubMed

History

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CompareRevisionActionTimeUserComment
71267view21:55, 16 October 2013MaintBotAutomated update of data sources
69744view09:16, 11 July 2013EgonwRemoved a space in the identifier.
68997view17:44, 8 July 2013MaintBotUpdated to 2013 gpml schema
54138view00:08, 22 November 2012AlexanderPicoAdded literature references
54137view23:54, 21 November 2012AlexanderPiconew lit refs
54136view23:52, 21 November 2012AlexanderPico
54135view23:48, 21 November 2012AlexanderPico
54046view01:54, 19 November 2012AlexanderPicoOntology Term : 'neurodegenerative disease pathway' added !
54045view01:54, 19 November 2012AlexanderPicoOntology Term : 'neurodegenerative disease' added !
54044view01:53, 19 November 2012AlexanderPicoOntology Term : 'Lewy body dementia' added !
54043view01:53, 19 November 2012AlexanderPicoOntology Term : 'Parkinson's disease' added !
54042view01:53, 19 November 2012AlexanderPicoOntology Term : 'Parkinson disease pathway' added !
54041view01:52, 19 November 2012AlexanderPicoModified categories
54040view01:50, 19 November 2012AlexanderPicoModified description
54039view01:50, 19 November 2012AlexanderPicoModified description
54038view01:41, 19 November 2012AlexanderPicoNew pathway

External references

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NameTypeDatabase referenceComment
SYT11GeneProduct23208 (Entrez Gene)
ROSMetabolite29191 (ChEBI)
DDCGeneProduct1644 (Entrez Gene)
Apoptosis PathwayPathwayWP254 (WikiPathways)
CASP6GeneProduct839 (Entrez Gene)
EPRSGeneProduct2058 (Entrez Gene)
UBE2G1GeneProduct7326 (Entrez Gene)
ProteinGeneProduct
MAPK11GeneProduct5600 (Entrez Gene)
DATGeneProduct6531 (Entrez Gene)
CASP3GeneProduct836 (Entrez Gene)
UCHL1GeneProduct7345 (Entrez Gene)
UBE2L6GeneProduct9246 (Entrez Gene)
ParkinGeneProduct5071 (Entrez Gene)
UBE2J1GeneProduct51465 (Entrez Gene)
SNCAGeneProduct6622 (Entrez Gene)
CCNE2GeneProduct9134 (Entrez Gene)
THGeneProduct7054 (Entrez Gene)
MAPK13GeneProduct5603 (Entrez Gene)
L-TyrosineMetaboliteC00082 (KEGG Compound)
CASP2GeneProduct835 (Entrez Gene)
L-DOPAMetaboliteC00355 (KEGG Compound)
MAPK SignalingPathwayWP382 (WikiPathways)
DopamineMetaboliteC03758 (KEGG Compound)
UBE2L3GeneProduct7332 (Entrez Gene)
LRRK2GeneProduct120892 (Entrez Gene)
UBE2J2GeneProduct118424 (Entrez Gene)
PINK1GeneProduct65018 (Entrez Gene)
UBE2G2GeneProduct7327 (Entrez Gene)
DJ1GeneProduct11315 (Entrez Gene)
ATXN2GeneProduct6311 (Entrez Gene)
HTRA2GeneProduct27429 (Entrez Gene)
CCNE1GeneProduct898 (Entrez Gene)
CYCSGeneProduct54205 (Entrez Gene)
MAPK12GeneProduct6300 (Entrez Gene)
GPR37GeneProduct2861 (Entrez Gene)
MAPK14GeneProduct1432 (Entrez Gene)
SEPT5GeneProduct5413 (Entrez Gene)
Oxidative PhosphorylationPathwayWP111 (WikiPathways)
SNCAIPGeneProduct9627 (Entrez Gene)
CASP9GeneProduct842 (Entrez Gene)
UBBGeneProduct7314 (Entrez Gene)
CASP7GeneProduct840 (Entrez Gene)
UBA1GeneProduct7317 (Entrez Gene)
APAF1GeneProduct317 (Entrez Gene)
UBA7GeneProduct7318 (Entrez Gene)
WNT SignalingPathwayWP399 (WikiPathways)
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