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Glucocerebrosidase dysfunction in GBA1 carriers: insights from blood and macrophage analyses.

Molecular biology reports - 21 Aug 2026

Nikolaev Mikhail, Kopytova Alena, Izyumchenko Artem, Senkevich Konstantin, Artynyuk Alexandra, Pidyurchina Victoria, Baydakova Galina, Miliukhina Irina, Zakharova Ekaterina, Emelyanov Anton, Pchelina Sofya

Abstract excerpt

BACKGROUND: Mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the most common genetic factor associated with Parkinson's disease (PD). These mutations are classified as "severe" or "mild" based on the residual GCase activity. This study aimed to compare the biochemical characteristics of peripheral blood and macrophages derived from peripheral blood mononuclear cells...

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Identifiers

PMID: 42627573
DOI: 10.1007/s11033-026-12610-3

Genes

GBA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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