Parkinsons Disease Pathway (Homo sapiens)

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Description

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. Kahle PJ, Haass C; ''How does parkin ligate ubiquitin to Parkinson's disease?''; EMBO Rep, 2004 PubMed
  2. 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
  3. 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
  4. Abou-Sleiman PM, Muqit MM, Wood NW; ''Expanding insights of mitochondrial dysfunction in Parkinson's disease.''; Nat Rev Neurosci, 2006 PubMed
  5. 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
  6. Sidhu A, Wersinger C, Vernier P; ''Does alpha-synuclein modulate dopaminergic synaptic content and tone at the synapse?''; FASEB J, 2004 PubMed
  7. Ren Y, Zhao J, Feng J; ''Parkin binds to alpha/beta tubulin and increases their ubiquitination and degradation.''; J Neurosci, 2003 PubMed
  8. Thomas B, Beal MF; ''Parkinson's disease.''; Hum Mol Genet, 2007 PubMed
  9. Vila M, Przedborski S; ''Targeting programmed cell death in neurodegenerative diseases.''; Nat Rev Neurosci, 2003 PubMed
  10. Burgos K, Malenica I, Metpally R, Courtright A, Rakela B, Beach T, Shill H, Adler C, Sabbagh M, Villa S, Tembe W, Craig D, Van Keuren-Jensen K; ''Profiles of extracellular miRNA in cerebrospinal fluid and serum from patients with Alzheimer's and Parkinson's diseases correlate with disease status and features of pathology.''; PLoS One, 2014 PubMed
  11. Singleton A; ''What does PINK1 mean for Parkinson diseases?''; Neurology, 2004 PubMed
  12. Hattori N; ''[The gene products for familial Parkinson's disease provide us hints to elucidate the mechanisms of nigral degeneration].''; Rinsho Shinkeigaku, 2004 PubMed
  13. Cookson MR; ''The biochemistry of Parkinson's disease.''; Annu Rev Biochem, 2005 PubMed
  14. Moore DJ, West AB, Dawson VL, Dawson TM; ''Molecular pathophysiology of Parkinson's disease.''; Annu Rev Neurosci, 2005 PubMed
  15. Vila M, Ramonet D, Perier C; ''Mitochondrial alterations in Parkinson's disease: new clues.''; J Neurochem, 2008 PubMed
  16. 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
  17. Abou-Sleiman PM, Healy DG, Wood NW; ''Causes of Parkinson's disease: genetics of DJ-1.''; Cell Tissue Res, 2004 PubMed

History

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CompareRevisionActionTimeUserComment
78942view22:48, 16 February 2015KhanspersAdded lit ref as label
78940view22:37, 16 February 2015Khanspersmoved miRNA box
78939view22:34, 16 February 2015Khanspersmove miRNA box
78938view22:30, 16 February 2015KhanspersAdded miRNAs from Burgos et al
78809view09:46, 31 January 2015EgonwUpdated an DataNode and Interaction with pure graphical elements.
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
MIR10AGeneProduct406902 (Entrez Gene)
MIR132GeneProduct406921 (Entrez Gene)
ROSMetabolite29191 (ChEBI)
CASP6GeneProduct839 (Entrez Gene)
Apoptosis PathwayPathwayWP254 (WikiPathways)
MIR409GeneProduct574413 (Entrez Gene)
EPRSGeneProduct2058 (Entrez Gene)
DDCGeneProduct1644 (Entrez Gene)
DATGeneProduct6531 (Entrez Gene)
CASP3GeneProduct836 (Entrez Gene)
UCHL1GeneProduct7345 (Entrez Gene)
MIR485GeneProduct574436 (Entrez Gene)
ParkinGeneProduct5071 (Entrez Gene)
MIR873GeneProduct100126316 (Entrez Gene)
SNCAGeneProduct6622 (Entrez Gene)
MIR16-2GeneProduct406951 (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)
MIR19B1GeneProduct406980 (Entrez Gene)
LRRK2GeneProduct120892 (Entrez Gene)
MIR128-1GeneProduct406915 (Entrez Gene)
PINK1GeneProduct65018 (Entrez Gene)
MIR433Rna574034 (Entrez Gene)
DJ1GeneProduct11315 (Entrez Gene)
MIR136GeneProduct406927 (Entrez Gene)
HTRA2GeneProduct27429 (Entrez Gene)
MIR4448GeneProduct100616127 (Entrez Gene)
CYCSGeneProduct54205 (Entrez Gene)
MIR30EGeneProduct407034 (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)
UBE2L3GeneProduct7332 (Entrez Gene)
MIR19AGeneProduct406979 (Entrez Gene)
UBE2L6GeneProduct9246 (Entrez Gene)
MIR19B2GeneProduct406981 (Entrez Gene)
UBE2J2GeneProduct118424 (Entrez Gene)
MIR127Rna406914 (Entrez Gene)
UBE2G1GeneProduct7326 (Entrez Gene)
MIR128-2GeneProduct406916 (Entrez Gene)
UBE2G2GeneProduct7327 (Entrez Gene)
MIRLET7GGeneProduct406890 (Entrez Gene)
UBE2J1GeneProduct51465 (Entrez Gene)
MIR370GeneProduct442915 (Entrez Gene)
ATXN2GeneProduct6311 (Entrez Gene)
MIR431Rna574038 (Entrez Gene)
SYT11GeneProduct23208 (Entrez Gene)
MIR212GeneProduct406994 (Entrez Gene)
CCNE1GeneProduct898 (Entrez Gene)
MIR1224GeneProduct100187716 (Entrez Gene)
CCNE2GeneProduct9134 (Entrez Gene)
MIR338GeneProduct442906 (Entrez Gene)
MAPK12GeneProduct6300 (Entrez Gene)
MIR1294GeneProduct100302181 (Entrez Gene)
MAPK11GeneProduct5600 (Entrez Gene)
MIR30AGeneProduct407029 (Entrez Gene)
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