g(DBSNP:rs104893877) positiveCorrelation complex(GO:"neurofibrillary tangle")

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PubMed:12714745

Recent studies of an individual with Parkinson’s disease (IX-47) of the Contursi kindred with the rare A53T alpha-synuclein mutation revealed widespread -syn and tau inclusions (15). Post-mortem examination of another affected member (IX-51) of this kindred also demonstrated abundant -syn and tau inclusions(figs. S1 and S2). Thus, a pathogenic mutation in alpha-synuclein that is known to increase the propensity of alpha-synuclein to fibrillize (8, 9) also promotes formation of tau inclusions in humans.

Related Edges 3

• complex(GO:"Lewy body") positiveCorrelation g(DBSNP:rs104893877)
• complex(GO:"neurofibrillary tangle") positiveCorrelation g(DBSNP:rs104893877)
• g(DBSNP:rs104893877) positiveCorrelation complex(GO:"Lewy body")

Disease Ontology (DO)

Parkinson's disease

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