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

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...

Full description

Bibliographic Details
Main Authors: François Ancien, Fabrizio Pucci, Marianne Rooman
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
sphingomyelin phosphodiesterase
Niemann-Pick disease
Parkinson disease
genetic variants
disease severity prediction
Online Access:https://www.mdpi.com/1422-0067/22/9/4516

Internet

https://www.mdpi.com/1422-0067/22/9/4516

Similar Items