Ontology highlight
ABSTRACT:
SUBMITTER: Maharaj A
PROVIDER: S-EPMC7482430 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Maharaj A A Williams J J Bradshaw T T Güran T T Braslavsky D D Casas J J Chan L F LF Metherell L A LA Prasad R R
The Journal of steroid biochemistry and molecular biology 20200716
Deficiency in Sphingosine-1-phosphate lyase (S1P lyase) is associated with a multi-systemic disorder incorporating primary adrenal insufficiency (PAI), steroid resistant nephrotic syndrome and neurological dysfunction. Accumulation of sphingolipid intermediates, as seen with loss of function mutations in SGPL1, has been implicated in mitochondrial dysregulation, including alterations in mitochondrial membrane potentials and initiation of mitochondrial apoptosis. For the first time, we investigat ...[more]