scholarly journals Cell Lines from Kidney Proximal Tubules of a Patient with Lowe Syndrome Lack OCRL Inositol Polyphosphate 5-Phosphatase and Accumulate Phosphatidylinositol 4,5-Bisphosphate

1998 ◽  
Vol 273 (3) ◽  
pp. 1574-1582 ◽  
Author(s):  
Xiaoling Zhang ◽  
Patricia A. Hartz ◽  
Elizabeth Philip ◽  
Lorraine C. Racusen ◽  
Philip W. Majerus
Keyword(s):  
Cell Lines ◽  
Proximal Tubules ◽  
Lowe Syndrome ◽  
Inositol Polyphosphate ◽  
Kidney Proximal Tubules

scholarly journals Structural requirements for protection by small amino acids against hypoxic injury in kidney proximal tubules 1

1990 ◽  
Vol 4 (15) ◽  
pp. 3347-3354 ◽  
Author(s):  
Joel M. Weinberg ◽  
Manjeri A. Venkatachalam ◽  
Ricardo Garzo‐Quintero ◽  
Nancy F. Roeser ◽  
Julie A. Davis
Keyword(s):  
Amino Acids ◽  
Proximal Tubules ◽  
Structural Requirements ◽  
Hypoxic Injury ◽  
Kidney Proximal Tubules

Ouabain-insensitive, Na-ATPase activity in pure suspensions of rat kidney proximal tubules

FEBS Letters ◽  
1990 ◽  
Vol 269 (1) ◽  
pp. 77-78 ◽  
Author(s):  
Reinaldo Marín ◽  
Daniela C. Gómez ◽  
Gloria A. Rodríguez ◽  
Teresa Proverbio ◽  
Fulgencio Proverbio
Keyword(s):  
Atpase Activity ◽  
Rat Kidney ◽  
Proximal Tubules ◽  
Kidney Proximal Tubules

Acute Regulation of Na+:HCO3- Cotransport System In Kidney Proximal Tubules

1994 ◽  
pp. 309-317
Author(s):  
Manoocher Soleimani ◽  
Gwen L. Bizal ◽  
Yolanda J. Hattabaugh ◽  
Peter S. Aronson ◽  
Julia A. Bergman
Keyword(s):  
Proximal Tubules ◽  
Cotransport System ◽  
Kidney Proximal Tubules

scholarly journals Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model

2019 ◽  
Vol 31 (1) ◽  
pp. 67-83 ◽  
Author(s):  
Megan L. Gliozzi ◽  
Eugenel B. Espiritu ◽  
Katherine E. Shipman ◽  
Youssef Rbaibi ◽  
Kimberly R. Long ◽  
...  
Keyword(s):  
Cell Division ◽  
Proximal Tubule ◽  
Cell Lines ◽  
Kidney Development ◽  
Lowe Syndrome ◽  
Multinucleated Cells ◽  
Protein Excretion ◽  
Pt Cell ◽  
Renal Tubular ◽  
Endocytic Traffic

BackgroundLowe 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.MethodsWe 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.ResultsOCRL-depleted human cells proliferated more slowly and about 10% of them were multinucleated compared with fewer than 2% of matched control cells. Heterologous expression of wild-type, but not phosphatase-deficient, OCRL prevented the accumulation of multinucleated cells after acute knockdown of OCRL but could not rescue the phenotype in stably edited knockout cell lines. Mathematic modeling confirmed that reduced PT length can account for the urinary excretion profile in LS. Both ocrl mutant zebrafish and zebrafish injected with ocrl morpholino showed truncated expression of megalin along the pronephric kidney, consistent with a shortened S1 segment.ConclusionsOur data suggest a unifying model to explain how loss of OCRL results in tubular proteinuria as well as the other commonly observed renal manifestations of LS. We hypothesize that defective cell division during kidney development and/or repair compromises PT length and impairs kidney function in LS patients.

scholarly journals Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase

2019 ◽  
Vol 9 (2) ◽  
pp. 95-100
Author(s):  
Katsusuke Yamamoto ◽  
Yasuhiro Hasegawa ◽  
Yasuhisa Ohata ◽  
Kenichi Satomura ◽  
Yoshimi Mizoguchi ◽  
...  
Keyword(s):  
Female Patient ◽  
Lowe Syndrome ◽  
Inositol Polyphosphate

Differential regulation of Na+/H+ exchange and H+ -ATPase by pH and HCO 3 ? in kidney proximal tubules

1995 ◽  
Vol 144 (3) ◽  
Author(s):  
M. Soleimani ◽  
C. Bookstein ◽  
G. Singh ◽  
M.C. Rao ◽  
E.B. Chang ◽  
...  
Keyword(s):  
Differential Regulation ◽  
Proximal Tubules ◽  
Kidney Proximal Tubules
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