Article

ASM Variants in the Spotlight: A Structure-Based Atlas for Unraveling Pathogenic Mechanisms in Lysosomal Acid Sphingomyelinase

2023-11-24

Abstract excerpt

Lysosomal acid sphingomyelinase (ASM), a critical enzyme in lipid metabolism encoded by the SMPD1 gene, plays a crucial role in sphingomyelin hydrolysis in lysosomes. ASM deficiency leads to acid sphingomyelinase deficiency, a rare genetic disorder with diverse clinical manifestations, and the protein can be found mutated in other diseases. We employed a structure-based framework to comprehensively understand the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6995a75a-8b27-5798-8211-ae2f693384e8
DOI: 10.1101/2023.11.24.568551

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

ASM Variants in the Spotlight: A Structure-Based Atlas for Unraveling Pathogenic Mechanisms in Lysosomal Acid SphingomyelinaseDOI 10.1101/2023.11.24.568551Read

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

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

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.Semantic proximity Read

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Semantic proximity Read

Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.Semantic proximity Read

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.Semantic proximity Read

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.Semantic proximity Read

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1aSemantic proximity Read

Crystal structure of mammalian acid sphingomyelinase.Semantic proximity Read

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.Semantic proximity Read

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.Semantic proximity Read

Exome sequencing in Asian populations identifies rare deficient<i>SMPD1</i>alleles that increase risk of Parkinson’s diseaseSemantic proximity Read