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Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease

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 patie...

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Autori principali: Yan-Feng Zhou, Matthew C. Metcalf, Scott C. Garman, Tim Edmunds, Huawei Qiu, Ronnie R. Wei
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Portfolio 2016-10-01
Serie:Nature Communications
Accesso online:https://doi.org/10.1038/ncomms13082
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