Article
Identification of pyrimidinyl piperazines as non-iminosugar glucocerebrosidase (GCase) pharmacological chaperones.
Bioorganic & medicinal chemistry letters - 1 Feb 2023
Hoshikawa Tamaki, Watanabe Toru, Kotake Makoto, Tiberghien Nathalie, Woo Chi-Kit, Lewis Sian, Briston Thomas, Koglin Mumta, Staddon James M, Powney Ben, Schapira Anthony H V, Takle Andrew K
Abstract excerpt
Glucocerebrosidase (GCase) is a lysosomal enzyme encoded by the GBA1 gene, loss of function variants of which cause an autosomal recessive lysosomal storage disorder, Gaucher disease (GD). Heterozygous variants of GBA1 are also known as the strongest common genetic risk factor for Parkinson's disease (PD). Restoration of GCase enzymatic function using a pharmacological chaperone strategy is considered a promising...
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