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Lab Reports
February 7, 2007

Gaucher Disease

JAMA. 2007;297(5):459. doi:10.1001/jama.297.5.459-d

Newly reported details of the protein that is mutated in Gaucher disease may help scientists design molecules to restore normal functions to affected cells. Researchers led by investigators at the Brigham and Women's Hospital, in Boston, and Brandeis University, in Waltham, Mass, have identified the active form of this protein—an enzyme called acid β-glucosidase—which is needed for cells to remain healthy (Lieberman RL et al. Nat Chem Biol. doi:10.1038/nchembio850 [published online December 24, 2006]).

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