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DJ1, also known as Parkinson disease protein 7, is a protein which in humans is encoded by the PARK7 gene. [5] Its weak glyoxalase activity has been verified by many labs, [ 6 ] however the reported protein deglycase activity is likely to be an artifact stemming from DJ-1's ability to destroy free methylglyoxal.
Parkin is a 465-amino acid residue E3 ubiquitin ligase, a protein that in humans and mice is encoded by the PARK2 gene. [5] [6] Parkin plays a critical role in ubiquitination – the process whereby molecules are covalently labelled with ubiquitin (Ub) and directed towards degradation in proteasomes or lysosomes.
PINK1 is synthesized as a 63000 Da protein which is often cleaved by PARL, between the 103-Alanine and the 104-Phenylalanine residues, into a 53000 Da fragment. [11] PINK1 contains an N-terminal mitochondrial localization sequence, a putative transmembrane sequence, a Ser/Thr kinase domain, and a C-terminal regulatory sequence.
Mutations in this gene have been associated with Parkinson's disease type 8. [20] [21] The G2019S mutation results in enhanced kinase activity, and is a relatively common cause of familial Parkinson's disease in Caucasians. [22] It may also cause sporadic Parkinson's disease. The mutated Gly amino acid is conserved in all kinase domains of all ...
A brain tissue with Lewy bodies. The first major proposed cause of neuronal death in Parkinson's disease is the bundling, or oligomerization, of proteins.The protein alpha-synuclein has increased presence in the brains of Parkinson's Disease patients and, as α-synuclein is insoluble, it aggregates to form Lewy bodies (shown to left) in neurons.
Knowledge-driven pathway construction entails development of a detailed pathway knowledge base for particular domains of interest, such as a cell type, disease, or system. The curation process of a biological pathway entails identifying and structuring content, mining information manually and/or computationally, and assembling a knowledgebase ...
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