Article
A mutation in SCARB2 is a modifier in Gaucher disease.
Human mutation - 1 Nov 2011
Velayati Arash, DePaolo John, Gupta Nidhi, Choi Jae H, Moaven Nima, Westbroek Wendy, Goker-Alpan Ozlem, Goldin Ehud, Stubblefield Barbara K, Kolodny Edwin, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
Lysosomal integral membrane protein type 2 (LIMP-2) is responsible for proper sorting and lysosomal targeting of glucocerebrosidase, the enzyme deficient in Gaucher disease (GD). Mutations in the gene for LIMP-2, SCARB2, are implicated in inherited forms of myoclonic epilepsy, and myoclonic epilepsy is part of the phenotypic spectrum associated with GD. We investigated whether SCARB2 mutations impact the Gaucher...
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