Genetics: SGPL1 mutations cause a novel SRNS syndrome

Nature Reviews Nephrology 13, 191 (2017). doi:10.1038/nrneph.2017.19 Author: Ellen F. Carney Two new studies published simultaneously by different research groups report that recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase, cause a syndromic form of steroid- resistant nephrotic syndrome (SRNS) with adrenal insufficiency. SGPL1 degrades the intracellular signalling molecule S1P, which has roles in
Source: Nature Reviews Nephrology - Category: Urology & Nephrology Authors: Tags: Research Highlight Source Type: research