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Several small-molecule chaperones, such as amiloride [151], AT2101 (isofagomine) [152] and histone deacetylase inhibitors [153], have been shown to increase GCase activity and reduce oxidative stress in PD fibroblasts carrying GBA1 mutations or enhance GCase activity in GBA macrophage models

Classifications include: Benign, Likely Benign, VUS (Variant of Uncertain Significance), Likely Pathogenic, and P Pathogenic

The mechanisms of action of APR-246 was investigated in AML cell lines with TP53 mutations, and more specifically studied its association with 5-azacytidine which is currently used in clinical trials

You will learn the right terminology, when to use it, documentation standards, billing criteria, and payer-specific issues