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Article

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.

Human molecular genetics - 1 Jun 2003

Marx Frank P, Holzmann Carsten, Strauss Karsten M, Li Lei, Eberhardt Olaf, Gerhardt Ellen, Cookson Mark R, Hernandez Dena, Farrer Matt J, Kachergus Jennifer, Engelender Simone, Ross Christopher A, Berger Klaus, Schöls Ludger, Schulz Jörg B, Riess Olaf, Krüger Rejko

Abstract excerpt

Synphilin-1 is linked to the pathogenesis of Parkinson's disease (PD) based on its identification as an alpha-synuclein (PARK1) and parkin (PARK2) interacting protein. Moreover, synphilin-1 is a component of Lewy bodies (LB) in brains of sporadic PD patients. Therefore, we performed a detailed mutation analysis of the synphilin-1 gene in 328 German familial and sporadic PD patients. In two apparently sporadic PD...

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PMID: 12761037
DOI: 10.1093/hmg/ddg134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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