Ontology highlight
ABSTRACT:
SUBMITTER: Gaudioso A
PROVIDER: S-EPMC10079961 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Gaudioso Ángel Á Jiang Xuntian X Casas Josefina J Schuchman Edward H EH Ledesma María Dolores MD
Cell death & disease 20230406 4
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the SMPD1 gene encoding for the acid sphingomyelinase (ASM). While intravenous infusion of recombinant ASM is an effective treatment for the peripheral disease, the neurological complications of ASMD remain unaddressed. It has been shown that aberrantly high level of total brain sphingomyelin (SM) is a key pathological event leading to neurodegeneration. Using mice lacking ASM (ASMko), which mimic the ...[more]