Glucocerebrosidase (GBA) antibodies are tools used to study the enzyme glucocerebrosidase, encoded by the *GBA1* gene. This lysosomal enzyme hydrolyzes glucocerebroside into glucose and ceramide, playing a critical role in lipid metabolism. Mutations in *GBA1* are linked to Gaucher disease, a lysosomal storage disorder characterized by glucocerebroside accumulation in macrophages, leading to organomegaly, bone abnormalities, and neurological symptoms. Additionally, *GBA1* variants are the most common genetic risk factor for Parkinson’s disease, associated with α-synuclein aggregation and neurodegeneration.
GBA antibodies are pivotal in research to quantify enzyme levels, assess cellular localization, and investigate disease mechanisms. They enable detection of GBA protein expression in tissues, aiding in diagnosing Gaucher disease and studying its pathophysiology. In Parkinson’s research, these antibodies help explore connections between GBA deficiency, lysosomal dysfunction, and α-synuclein pathology.
Therapeutic strategies, such as enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and pharmacological chaperones, rely on GBA antibodies to monitor treatment efficacy or enzyme stabilization. Emerging approaches, including gene therapy and small-molecule modulators, also utilize these antibodies to validate target engagement. Challenges remain in understanding how *GBA1* mutations contribute to neurodegeneration, driving ongoing studies to refine antibody specificity and applications in translational models.
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