Results 1 to 10 of about 4,156 (218)
SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase [PDF]
Cell Reports, 2021 Summary: Legionella pneumophila grows intracellularly within a replication vacuole via action of Icm/Dot-secreted proteins. One such protein, SdhA, maintains the integrity of the vacuolar membrane, thereby preventing cytoplasmic degradation of bacteria ...
Wenwen Huo +2 more
exaly +9 more sources
Mitochondrial structure and function in OCRL depleted cells [PDF]
Frontiers in Cell and Developmental BiologyLowe syndrome (LS) is an X-linked, recessive disease with a characteristic clinical triad of eye, brain, and kidney defects. LS results from mutations in the OCRL gene that encodes for inositol polyphosphate 5-phosphatase enzyme.
Ron George Philip +5 more
doaj +4 more sources
A role for OCRL in glomerular function and disease [PDF]
Pediatric Nephrology, 2019 Background: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can ...
Rebecca Preston +2 more
exaly +13 more sources
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations
Genetics Research, 2022 Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang +12 more
doaj +4 more sources
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease [PDF]
Biomedicines, 2023 Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche +4 more
doaj +3 more sources
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2
Nature Reviews Nephrology, 2017 Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase (OCRL) that acts on phosphoinositides - quantitatively minor constituents of cell membranes that are ...
Maria Antonietta De Matteis +2 more
exaly +7 more sources
Autophagosome–lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL [PDF]
Nature Cell Biology, 2016 Phosphoinositides (PtdIns) control fundamental cell processes, and inherited defects of PtdIns kinases or phosphatases cause severe human diseases, including Lowe syndrome due to mutations in OCRL, which encodes a PtdIns(4,5)P2 5-phosphatase.
Tobias Starborg +2 more
exaly +8 more sources
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease [PDF]
Genes, 2018 Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar ...
Ana Perdomo-Ramirez +2 more
exaly +4 more sources
BMC Medical Genomics, 2021 Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Yu Zhang +6 more
doaj +3 more sources
Stem Cell Research, 2022 OCRL encodes for an inositol polyphosphate 5-phosphatase, located in the trans-Golgi network, endosomes, endocytic clathrin-coated pits, primary cilia. Mutations in OCRL causes Lowe syndrome (LS), a rare and complex disorder characterized by congenital ...
Grazia Iannello +4 more
doaj +2 more sources