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Genetics: SGPL1 mutations cause a novel SRNS syndrome
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Abstract
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