In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity

Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic severity ranging from severe symptomatology involving the central nervous system...

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Detalles Bibliográficos
Autores principales: Ancien, François, Pucci, Fabrizio, Rooman, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123603/
https://www.ncbi.nlm.nih.gov/pubmed/33925997
http://dx.doi.org/10.3390/ijms22094516

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123603/
https://www.ncbi.nlm.nih.gov/pubmed/33925997
http://dx.doi.org/10.3390/ijms22094516

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