ASM variants in the spotlight: A structure-based atlas for unraveling pathogenic mechanisms in lysosomal acid sphingomyelinase

Simone Scrima, Matteo Lambrughi, Matteo Tiberti, Elisa Fadda, Elena Papaleo

2024Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease13 citationsDOI

Topics & Concepts

SphingomyelinMissense mutationAcid sphingomyelinaseBiologyComputational biologyPhenotypeGeneGeneticsMembraneSphingolipid Metabolism and SignalingLysosomal Storage Disorders ResearchCellular transport and secretion