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

Autor: Yan-Feng Zhou, Matthew C. Metcalf, Scott C. Garman, Tim Edmunds, Huawei Qiu, Ronnie R. Wei
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/ncomms13082
Popis: 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.
Databáze: Directory of Open Access Journals