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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Autores principales:	Yan-Feng Zhou, Matthew C. Metcalf, Scott C. Garman, Tim Edmunds, Huawei Qiu, Ronnie R. Wei
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/eda182e9ef134dd2b69154514ce76ea7
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spelling	oai:doaj.org-article:eda182e9ef134dd2b69154514ce76ea72021-12-02T16:56:46ZHuman acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease10.1038/ncomms130822041-1723https://doaj.org/article/eda182e9ef134dd2b69154514ce76ea72016-10-01T00:00:00Zhttps://doi.org/10.1038/ncomms13082https://doaj.org/toc/2041-1723Genetic 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.Yan-Feng ZhouMatthew C. MetcalfScott C. GarmanTim EdmundsHuawei QiuRonnie R. WeiNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Yan-Feng Zhou Matthew C. Metcalf Scott C. Garman Tim Edmunds Huawei Qiu Ronnie R. Wei Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
description	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.
format	article
author	Yan-Feng Zhou Matthew C. Metcalf Scott C. Garman Tim Edmunds Huawei Qiu Ronnie R. Wei
author_facet	Yan-Feng Zhou Matthew C. Metcalf Scott C. Garman Tim Edmunds Huawei Qiu Ronnie R. Wei
author_sort	Yan-Feng Zhou
title	Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
title_short	Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
title_full	Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
title_fullStr	Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
title_full_unstemmed	Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
title_sort	human acid sphingomyelinase structures provide insight to molecular basis of niemann–pick disease
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/eda182e9ef134dd2b69154514ce76ea7
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Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease

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