Article
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2021
Lerche Stefanie, Schulte Claudia, Wurster Isabel, Machetanz Gerrit, Roeben Benjamin, Zimmermann Milan, Deuschle Christian, Hauser Ann-Kathrin, Böhringer Judith, Krägeloh-Mann Ingeborg, Waniek Katharina, Lachmann Ingolf, Petterson Xuan-Mai T, Chiang Ruby, Park Hyejung, Wang Bing, Liepelt-Scarfone Inga, Maetzler Walter, Galasko Douglas, Scherzer Clemens R, Gasser Thomas, Mielke Michelle M, Hutten Samantha J, Mollenhauer Brit, Sardi S Pablo, Berg Daniela, Brockmann Kathrin
Abstract excerpt
BACKGROUND: With pathway-specific trials in PD associated with variants in the glucocerebrosidase gene (PDGBA ) under way, we need markers that confirm the impact of genetic variants in patient-derived biofluids in order to allow patient stratification merely based on genetics and that might serve as biochemical read-out for target engagement. OBJECTIVE: To explore GBA-pathway-specific biomarker profiles...
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