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Journal of the American Society of Nephrology, ISSN 1046-6673, 05/2017, Volume 28, Issue 5, pp. 1399 - 1407
Journal Article
Current Biology, ISSN 0960-9822, 03/2019, Volume 29, Issue 5, pp. 775 - 789.e7
During cytokinesis, an actomyosin contractile ring drives the separation of the two daughter cells. A key molecule in this process is the inositol lipid... 
actin | endosome | cytokinesis | BAR domain protein | PtdIns(4,5)P2 | IPIP27 | OCRL | SH3PX1 | phosphoinositide
Journal Article
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, ISSN 2222-3959, 07/2019, Volume 12, Issue 7, pp. 1057 - 1060
AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent... 
5-PHOSPHATASE | oculocerebrorenal syndrome | GENE | Lowe syndrome | OPHTHALMOLOGY | OCRL | DOMAINS | congenital membranous cataract | lowe syndrome | ocrl
Journal Article
Journal of cell science, ISSN 1477-9137, 2017, Volume 130, Issue 20, pp. 3447 - 3454
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular... 
Lowe syndrome | Sonic hedgehog | Phosphoinositide | OCRL | Primary cilia | PI(4,5)P | MEMBRANE | PHOSPHATASE | PI(4,5)P-2 | RAB35 GTPASE | TRAFFICKING | PRIMARY CILIUM | PHOSPHOINOSITIDES | CELL BIOLOGY | INPP5B | SYNDROME PROTEIN OCRL1 | TRANSITION ZONE | INOSITOL POLYPHOSPHATE 5-PHOSPHATASE
Journal Article
Journal of pediatric genetics (Birmingham, Ala.), ISSN 2146-4596, 2012, Volume 1, Issue 1, pp. 15 - 23
Abstract Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and... 
Cataracts | OCRL gene | Dent-2 disease | Mental retardation | Proximal tubulopathy | mental retardation | proximal tubulopathy | cataracts
Journal Article
Nephrology, dialysis, transplantation, ISSN 0931-0509, 2018, Volume 33, Issue 1, pp. 85 - 94
Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic... 
d_article_not_yet_freely_accessible | Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | chronic kidney disease | LOWE-SYNDROME | nephrocalcinosis | UROLOGY & NEPHROLOGY | SPECTRUM | DENT-DISEASE | TRANSPLANTATION | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
Journal Article
The Journal of cell biology, ISSN 1540-8140, 2017, Volume 216, Issue 11, pp. 3745 - 3765
The conditional use of actin during clathrin-mediated endocytosis in mammalian cells suggests that the cell controls whether and how actin is used. Using a... 
RECRUITMENT | ENDOSOMES | SELECTIVE INHIBITOR | LOWE | BAR PROTEINS | CYTOSKELETON | MEDIATED ENDOCYTOSIS | DYNAMIN | OCRL | MULTIPLE | CELL BIOLOGY | Oculocerebrorenal Syndrome - genetics | Retinal Pigment Epithelium - metabolism | Sorting Nexins - genetics | Phosphatidylinositol Phosphates - metabolism | Cytoskeletal Proteins - genetics | Humans | Protein Multimerization | Actins - metabolism | Actin-Related Protein 2-3 Complex - genetics | cdc42 GTP-Binding Protein - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Clathrin-Coated Vesicles - metabolism | Phosphatidylinositol 4,5-Diphosphate - metabolism | Actin-Related Protein 2-3 Complex - metabolism | Endocytosis | Transfection | RNA Interference | Time Factors | Cytoskeletal Proteins - metabolism | Phosphatidylinositols - metabolism | Sorting Nexins - metabolism | Wiskott-Aldrich Syndrome Protein, Neuronal - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Coated Pits, Cell-Membrane - metabolism | Phosphoric Monoester Hydrolases - genetics | Signal Transduction | Xenopus laevis | Clathrin - metabolism | Hydrolysis | Animals | cdc42 GTP-Binding Protein - genetics | CRISPR-Cas Systems | Oculocerebrorenal Syndrome - metabolism | HeLa Cells | Phosphoric Monoester Hydrolases - metabolism | Wiskott-Aldrich Syndrome Protein, Neuronal - genetics
Journal Article
Molecular Biology of the Cell, ISSN 1059-1524, 03/2015, Volume 26, Issue 5, pp. 952 - 965
Journal Article
Journal of cell science, ISSN 0021-9533, 10/2017, Volume 130, Issue 20, pp. 3447 - 3454
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 2019, Volume 116, Issue 30, pp. 201901744 - 15022
Phosphorylation reactions, driven by competing kinases and phosphatases, are central elements of cellular signal transduction. We reconstituted a native... 
bistability | ACTIVATION | MEMBRANE | MULTIDISCIPLINARY SCIENCES | OCRL | HIGH-AFFINITY BINDING | kinase | PHOSPHATIDYLINOSITOL 4-PHOSPHATE | SIGNALING SYSTEM | LIGATION-INDEPENDENT CLONING | NUCLEOTIDE EXCHANGE FACTOR | stochastic | polarization | phosphatase | DIFFUSION | FEEDBACK | Phosphorylation | Phosphatidylinositol Phosphates - metabolism | Phosphotransferases (Alcohol Group Acceptor) - chemistry | Humans | Bacterial Proteins - chemistry | Unilamellar Liposomes - chemistry | Single Molecule Imaging | Phosphatidylinositol Phosphates - chemistry | Phosphatidylinositol 4,5-Diphosphate - metabolism | Stochastic Processes | Guanine Nucleotide Exchange Factors - metabolism | Legionella pneumophila - enzymology | Phosphatidylinositol 4,5-Diphosphate - chemistry | Legionella pneumophila - chemistry | Recombinant Proteins - metabolism | Signal Transduction | Recombinant Proteins - chemistry | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Unilamellar Liposomes - metabolism | Phospholipase C delta - metabolism | Phospholipase C delta - chemistry | Bacterial Proteins - metabolism | Kinetics | Lipid Bilayers - chemistry | Lipid Bilayers - metabolism | Phosphoric Monoester Hydrolases - metabolism | Guanine Nucleotide Exchange Factors - chemistry | Phosphoric Monoester Hydrolases - chemistry | Phosphates | Cellular signal transduction | Phosphatases | Phosphotransferases | Polarization | Membranes | Confinement | Composition | Copy number | Variations | Lipids | Membrane composition | Kinases | Phosphatase | Signalling systems | Bistability | Signal transduction | Lipid kinase | Transduction | Stochasticity | Diffusion | Biological Sciences | PNAS Plus
Journal Article