Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
about
Dent Disease with mutations in OCRL1Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi networkOCRL1 function in renal epithelial membrane trafficInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesPhosphoinositides: tiny lipids with giant impact on cell regulationRecognition of the F&H; motif by the Lowe syndrome protein OCRLNegative regulation of phosphatidylinositol 4,5-bisphosphate levels by the INP51-associated proteins TAX4 and IRS4.Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndromeFunctional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in miceCell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphateThe role of phosphatases in inositol signaling reactions.Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype AnalysisMultiple host proteins that function in phosphatidylinositol-4-phosphate metabolism are recruited to the chlamydial inclusion.Traffic jam: a compendium of human diseases that affect intracellular transport processes.Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe SyndromeMultiple epidermal cysts in lowe syndrome.Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.Regulation of gating and rundown of HCN hyperpolarization-activated channels by exogenous and endogenous PIP2Mutations in synaptojanin disrupt synaptic vesicle recycling.Rab38 modulates proteinuria in model of hypertension-associated renal disease.OCRL1 modulates cilia length in renal epithelial cells.The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.Eps15 homology domain 1-associated tubules contain phosphatidylinositol-4-phosphate and phosphatidylinositol-(4,5)-bisphosphate and are required for efficient recycling.Lowe syndrome: literature review and case report.The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrinInositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.Rab GTPases regulating receptor trafficking at the late endosome-lysosome membranes.Cell biology and physiology of CLC chloride channels and transporters.Mutations associated with Dent's disease affect gating and voltage dependence of the human anion/proton exchanger ClC-5.Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.Morphological and biochemical analysis of the secretory pathway in melanoma cells with distinct metastatic potential.Oncogenic signaling by Kit tyrosine kinase occurs selectively on the Golgi apparatus in gastrointestinal stromal tumors.Chemical biology studies on norrisolide.Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase.Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.PI(4;5)P2 is dephosphorylated to PI4P by OCRL/INPP5E at the Golgi membraneUnusual renal features of Lowe syndrome in a mildly affected boy.
P2860
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P2860
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
description
1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1995
@ast
im Dezember 1995 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 1995/12/01)
@sk
vědecký článek publikovaný v roce 1995
@cs
wetenschappelijk artikel (gepubliceerd op 1995/12/01)
@nl
наукова стаття, опублікована в грудні 1995
@uk
مقالة علمية (نشرت في ديسمبر 1995)
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name
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
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Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
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Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@nl
type
label
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@ast
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@en
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@nl
prefLabel
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@ast
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@en
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@nl
P2093
P356
P1476
Lowe syndrome, a deficiency of ...... phatase in the Golgi apparatus
@en
P2093
I. M. Olivos-Glander
R. L. Nussabaum
S. F. Suchy
P304
P356
10.1093/HMG/4.12.2245
P577
1995-12-01T00:00:00Z