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The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.

Molecular genetics and metabolism - 1 May 2021

Goldstein Orly, Gana-Weisz Mali, Attar Reut, Bar-Shira Anat, Lederkremer Martine, Shiner Tamara, Thaler Avner, Mirelman Anat, Giladi Nir, Orr-Urtreger Avi

Abstract excerpt

GBA variations are common risk factors for Parkinson's disease (PD), and are found in 21.7% of Ashkenazi PD patients (AJ-PD), 4.23% of them carry an allele, 370Rec, which is different from the common GBA-N370S allele. Using whole-genome-sequencing of 370Rec carriers, N370S carriers, and non-carriers, we characterize the unique 370Rec haplotype in AJ-PDs, and show that it harbors a missense variant replacing the...

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PMID: 33762134
DOI: 10.1016/j.ymgme.2021.03.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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