Nature Communications (Oct 2016)
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
Abstract
Genetic alterations in the protein acid sphingomyelinase (ASM) lead to ASM deficiency and have been associated with Niemann–Pick disease. Here, the authors report the crystal structures of ASM alone and bound to its product, and discuss the catalytic mechanism and its possible significance for patients with ASM deficiency.