Megan L Gliozzi, Eugenel B Espiritu, Katherine E Shipman, Youssef Rbaibi, Kimberly R Long, Nairita Roy, Andrew W Duncan, Matthew J Lazzara, Neil A Hukriede, Catherine J Baty, Ora A Weisz
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 endocytic traffic and cell division in newly created human PT CRISPR/Cas9 OCRL knockout cells, multiple PT cell lines treated with OCRL -targeting siRNA, and in orcl -mutant zebrafish...
January 2020: Journal of the American Society of Nephrology: JASN