Ontology highlight
ABSTRACT:
SUBMITTER: Nair S
PROVIDER: S-EPMC8223251 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Nair Shiny S Bar Noffar N Xu Mina L ML Dhodapkar Madhav M Mistry Pramod K PK
Molecular genetics and metabolism 20200205 4
In Gaucher disease type 1 (GD1), genetic deficiency of lysosomal glucocerebrosidase results in the accumulation of glucosylceramide and glucosylsphingosine (GlcSph), that underlie chronic lipid-mediated metabolic inflammation. An important age-related phenotype is high risk of monoclonal gammopathy (MG), including multiple myeloma. We identified GlcSph, a pathological lyso-sphingolipid exclusively elevated in GD, as a mediator of B cell activation and as an antigenic target for GD1-associated MG ...[more]