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

Acid sphingomyelinase (ASM) hydrolyzes sphingomyelin to ceramide and phosphocholine, essential components of myelin in neurons. Genetic alterations in ASM lead to ASM deficiency (ASMD) and have been linked to Niemann–Pick disease types A and B. Olipudase alfa, a recombinant form of human ASM, is bei...

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Detalles Bibliográficos
Autores principales: Zhou, Yan-Feng, Metcalf, Matthew C., Garman, Scott C., Edmunds, Tim, Qiu, Huawei, Wei, Ronnie R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062611/
https://www.ncbi.nlm.nih.gov/pubmed/27725636
http://dx.doi.org/10.1038/ncomms13082