Article
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
Journal of the American Society of Nephrology : JASN - 1 Jan 2020
Gliozzi Megan L, Espiritu Eugenel B, Shipman Katherine E, Rbaibi Youssef, Long Kimberly R, Roy Nairita, Duncan Andrew W, Lazzara Matthew J, Hukriede Neil A, Baty Catherine J, Weisz Ora A
Abstract excerpt
BACKGROUND: Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which encodes the enzyme OCRL. Symptoms of LS include proximal tubule (PT) dysfunction typically characterized by low molecular weight proteinuria, renal tubular acidosis (RTA), aminoaciduria, and hypercalciuria. How mutant OCRL causes these symptoms isn't clear. METHODS: We examined the effect of deleting OCRL on...
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