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Caenorhabditis elegans GANA-1: An orthologue enzyme for human Fabry disease
thesisposted on 2023-09-22, 07:43 authored by CLERANCE SU YEE CHEONG
Fabry disease (FD) is an X-linked inherited lysosomal storage disease (LSD) caused by defective human α-galactosidase A enzyme, resulting in subsequent systemic accumulation of harmful glycosphingolipid known as globotriaosylceramide (Gb3), ultimately cause premature death. This thesis explores: (1) the functional activity of Caenorhabditis elegans (C. elegans) GANA-1 protein via in-silico studies; (2) the possibility of using C. elegans as FD small animal model; (3) the potential of C. elegans GANA-1 protein in reducing the Gb3 in FD cells.