about
Lowe syndromeA structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1OCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeThe PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathwayA PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolismA role of the Lowe syndrome protein OCRL in early steps of the endocytic pathwayTwo closely related endocytic proteins that share a common OCRL-binding motif with APPL1OCRL1 function in renal epithelial membrane trafficAll known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 bindingThe renal channelopathiesThe cellular and physiological functions of the Lowe syndrome protein OCRL1Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesProtein trafficking defects in inherited kidney diseasesPhosphoinositides: tiny lipids with giant impact on cell regulationOCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.CLIC4 regulates apical exocytosis and renal tube luminogenesis through retromer- and actin-mediated endocytic traffickingRecognition of the F&H; motif by the Lowe syndrome protein OCRLThe oculocerebrorenal syndrome of Lowe: an updateEmerging roles of PtdIns(4,5)P2--beyond the plasma membraneCrystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate SpecificitySac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndromeAMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisCharacterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunctionImpaired neural development in a zebrafish model for Lowe syndromeCharacterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Phosphoinositide phosphatases in cell biology and disease.Hereditary causes of kidney stones and chronic kidney diseaseDent's disease.Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome.Nephrolithiasis-associated bone disease: pathogenesis and treatment options.A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis.Dent-Wrong disease and other rare causes of the Fanconi syndromeSuppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease.Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.Chloride channel diseases resulting from impaired transepithelial transport or vesicular functionMutations in phosphoinositide metabolizing enzymes and human disease.
P2860
Q21203050-9019C57E-E1A2-4DC3-A359-660C4A901C2AQ24294988-66ED6497-1C44-44E2-9E3B-A4DFD30D0403Q24318114-9ED9562F-1AE2-4B41-8D4F-63D63EE46A2BQ24336978-22AF56B4-0347-4C7E-B265-5208851C125AQ24338714-239F3A52-E606-4381-A262-36D01433AFCFQ24569564-E96B79AE-64D6-4066-ADC3-3CCB00489987Q24624573-DE6BA412-0F33-45B8-B4E6-2C93ECBD4C9CQ24647354-51418D9E-AEEC-4E4A-B636-749548F4513EQ24648224-26B418F1-703D-4BB9-8A12-E757C2E10744Q26824023-93932831-9883-4C53-8873-C3543619337AQ26862286-F74162E1-B0D1-468D-94E6-C70C7B618CC2Q27012842-1966DD3C-E47D-4170-AFA6-E67076E6B8E6Q27012909-74044735-F598-4B49-8870-969278D8CCC2Q27012953-9F1EA075-BBE0-4E26-ACB5-CF6EE34404EDQ27305561-FF55EE47-9D83-4AA0-8983-D0D2A7D4C397Q27334829-51E09151-6FF1-4A23-92F5-67E819B007F9Q27670414-6247A3D4-68CA-43DE-9979-B22D4389BD35Q28075516-CFB5A65B-30BF-44B1-952D-8D3E60930220Q28084524-46565489-DCD6-47D1-8C2B-38CD7AA2E81DQ28117248-0EBFC53F-4AB9-459C-8C9C-70653A5F03EEQ28117913-ED38D92D-AE7F-4C14-A511-63A62267AC45Q28301617-650CC442-E468-4AB2-8415-F120B4F5A803Q28975784-7C612A75-C734-47F0-B419-28761CF1B453Q30373387-639DE90D-1F11-4296-88EC-9FCC173142B0Q30487102-235F3141-09BB-4FAB-A2A5-5822631A1EC3Q30512197-582684F6-BCAD-4599-A661-8831383F86AFQ33419184-4118EE9B-026D-4C41-AA7C-08C3E88D048DQ33862413-15AABC01-156E-40F3-9B9E-BFB54DDF1667Q34066169-F61A54C8-CA34-4514-B296-8992F2113D29Q34243602-53611F1C-6EE1-46E7-95E8-48F6CA45EC69Q34695333-AC3AE109-D410-4F74-821B-C8BCD5D40430Q34727614-7999F49E-0B49-4316-B2AD-1AF860263259Q34936324-C584558D-A439-4975-9017-EC65E375BADFQ35173167-266BC7D6-E3E8-4246-9EF3-8DBB0A610FA2Q35225936-20E5B505-750C-4BC8-9E40-765998CB4349Q35227702-440B60E2-BAF4-4BA7-8282-FE791932CD78Q35993726-57A0B857-E820-4CD1-B845-F7B4C03FA84AQ36062946-FB74947C-E2E3-4B32-8118-3F6CED400DADQ36216300-CEC654D0-7896-422A-B2EE-7735F8ABF451Q36402106-078C8010-E66D-42E8-B1E1-FB5D771C90D5
P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Dent Disease with mutations in OCRL1
@ast
Dent Disease with mutations in OCRL1
@en
Dent Disease with mutations in OCRL1
@en-gb
Dent Disease with mutations in OCRL1
@nl
type
label
Dent Disease with mutations in OCRL1
@ast
Dent Disease with mutations in OCRL1
@en
Dent Disease with mutations in OCRL1
@en-gb
Dent Disease with mutations in OCRL1
@nl
prefLabel
Dent Disease with mutations in OCRL1
@ast
Dent Disease with mutations in OCRL1
@en
Dent Disease with mutations in OCRL1
@en-gb
Dent Disease with mutations in OCRL1
@nl
P2093
P2860
P3181
P356
P1476
Dent Disease with mutations in OCRL1
@en
P2093
Antony E Shrimpton
Ari Simckes
Bernd Hoppe
Burkhard Toenshoff
Janos Matyus
Paul Hueber
Richard R Hoopes
Robert L Nussbaum
Sharon F Suchy
Stephen J Knohl
P2860
P3181
P356
10.1086/427887
P407
P577
2005-02-01T00:00:00Z