Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"GBA1"”.
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MODELLING GBA1-RELATED PARKINSON¿S DISEASE PATHOLOGY IN PATIENT-DERIVED MIDBRAIN ORGANOIDS
… hallmarks of Parkinson’s disease. Mutations in GBA1, encoding the glucosylceramide-hydrolyzing enzyme glucocerebrosidase, cause Gaucher’s disease and are the most frequent genetic risk factor for Parkinson’s disease. However, a defined link between mutations in GBA1 and Parkinson’s disease …
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Clinical aspects and in vitro modelling of GBA1 variant-associated Parkinson's disease
… to the development of PD. Mutations in the GBA1 gene have been identified as numerically the most important in PD, being found in approximately 5 % to 10 % of patients, and increasing the risk of developing PD by up to 20- to 30-fold. However, there is correlation between the severity of the …
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Exploring a Role for the Parkinson Disease-Linked GBA1 Gene in Host Responses to Infections
… interactions in PD. Mutations in the GBA1 gene, encoding a protein that confers glucocerebrosidase (GCase) activity, represent the commonest risk factor for PD development. In the present study, we sought to understand the role of murine Gba1 in microbial infection. GCase activity was …
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Gaucher Disease Protects Against Tuberculosis
Biallelic mutations in the glucocerebrosidase (GBA1) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine in macrophages. This and other lysosomal diseases occur with high frequency in Ashkenazi Jews. It has been proposed that the …