https://transhumanist.ru/index.php?action=history&feed=atom&title=OCRL 2026-05-04T16:13:34Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=OCRL&diff=4079&oldid=prev 2021-04-29T18:59:22Z

<p>Новая страница: «Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase OCRL-1) (OCRL-1) (Lowe oculocerebrorenal syndrome prot...»</p> <p><b>Новая страница</b></p><div>Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase OCRL-1) (OCRL-1) (Lowe oculocerebrorenal syndrome protein) (Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase) (EC 3.1.3.86) [OCRL1]<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with [[OCRL]] gene mutations.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27766457<br /> |abstract=The oculocerebrorenal syndrome of Lowe gene ([[OCRL]]) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase ([[OCRL]]-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent disease, of which low-molecular-weight (LMW) proteinuria is a characteristic feature. Megalin is considered to play an important role in the development of renal tubular proteinuria. Two forms of megalin are excreted into the urine: full-length megalin (C-megalin) and megalin ectodomain (A-megalin). We have explored the role of megalin in the development of LMW proteinuria in patients with [[OCRL]] mutations by determining urinary megalin fractions. We measured A- and C-megalin in spot urine samples from five male patients with [[OCRL]] mutations (median age 9 years), using sandwich enzyme-linked immunosorbent assays, and adjusted the obtained values for excreted creatinine. The results were compared with those of 50 control subjects and one patient with type 1 Dent disease (T1D). All patients demonstrated normal levels of urinary C-megalin. However, patients with [[OCRL]] mutations or T1D showed abnormally low levels of urinary A-megalin, with the exception of one 5-year-old boy with LS, who was the youngest patient enrolled in the study. Decreased excretion of urinary A-megalin in four out of five patients with [[OCRL]] mutations suggests that LMW proteinuria may be caused by impaired megalin recycling within the proximal tubular cells. Homologous enzymes, similar to inositol polyphosphate-5-phosphatase B in mice, may help to compensate for defective [[OCRL]]-1 function during early childhood.<br /> |mesh-terms=* Adolescent<br /> * Aging<br /> * Child<br /> * Child, Preschool<br /> * Dent Disease<br /> * Enzyme-Linked Immunosorbent Assay<br /> * Female<br /> * Humans<br /> * Low Density Lipoprotein Receptor-Related Protein-2<br /> * Male<br /> * Molecular Weight<br /> * Mutation<br /> * Oculocerebrorenal Syndrome<br /> * Phosphoric Monoester Hydrolases<br /> * Proteinuria<br /> * beta 2-Microglobulin<br /> |keywords=* Dent disease<br /> * Inositol polyphosphate-5-phosphatase<br /> * Lowe syndrome<br /> * Megalin<br /> * OCRL<br /> * Tubular proteinuria<br /> |full-text-url=https://sci-hub.do/10.1007/s00467-016-3535-x<br /> }}</div>

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