The cellular and physiological functions of the Lowe syndrome protein OCRL1
about
OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.The oculocerebrorenal syndrome of Lowe: an updateSac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Primary cilia signaling mediates intraocular pressure sensation.Ciliopathies: the trafficking connection.A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRLDent's disease complicated by nephrotic syndrome: A case reportInositol lipid phosphatases in membrane trafficking and human disease.Chromosomal Instability and Phosphoinositide Pathway Gene Signatures in Glioblastoma MultiformeChloride transporters and receptor-mediated endocytosis in the renal proximal tubule.Phosphatidylinositolphosphate phosphatase activities and cancer.Rab35 GTPase: A Central Regulator of Phosphoinositides and F-actin in Endocytic Recycling and Beyond.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Receptor-Mediated Endocytosis in the Proximal Tubule.Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.Rab GTPases and their interacting protein partners: Structural insights into Rab functional diversity.Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome.Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development.Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5.dOCRL maintains immune cell quiescence by regulating endosomal traffic.Primary cilia proteins: ciliary and extraciliary sites and functions.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome.Integrin α8 and Pcdh15 act as a complex to regulate cilia biogenesis in sensory cells."Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells
P2860
Q27305561-10DEB41C-B662-452A-AC85-5D766D0AD502Q28075516-D89D9BE1-2037-4384-8237-3088F0EE8A46Q28117913-65969082-34AF-4326-8741-F40F17DB5696Q33419184-ECE6497C-16F2-4E89-AD58-45DC14EFBE5BQ34144583-B1E155A7-92ED-4FBC-8564-3D567DE845C3Q34207085-02AB29B4-2715-4A47-8F03-8E123817B7AEQ35173167-6D6CB93C-0F0D-45A5-BBF7-2E0831136346Q36062946-6777ADEB-B529-414D-82A3-2A870B320981Q37292836-C344ADDD-AFAB-4D19-8EC8-616ED7AEC86EQ37425304-8388397B-4D7D-4F2C-A4C0-84846CC5B308Q38223317-9F537369-F4E8-4068-9584-D17D1141D65FQ38388784-CD770C01-BB75-4A68-837C-2DBA5FD1DC6FQ38395172-A69A0AC1-5FD2-4325-97B0-FB9F0CEFC628Q38572786-36FCE29B-4C9C-4175-A50C-52E750B65E95Q38872611-0149FA96-0094-42A9-BAA7-F0E606A9416BQ38885083-3E325A0A-EC8A-4913-8EFF-75DCD21C04B6Q38998708-FECEEA49-7682-4395-97C9-C05F83EF4C1DQ39318894-25B8599B-E05E-46D2-A147-75DBAE52B80FQ39385959-81C9AA7A-46B0-4471-B0E0-E0699CB51384Q41963383-867AA3DC-A8A6-44A8-9AE8-7D09D9743050Q42145534-2232A2F7-246D-44F9-88A8-E322C0515E8CQ43839416-8426E2E5-6DAE-4ACD-BC9E-C14818D2D9D4Q47110781-F2D3EC09-9763-46CC-80EC-A7EEE8FBBCA7Q47228439-F702DCB0-0E94-4B75-812C-2535C99A0EF6Q47558855-A07A0959-671E-45A9-A5A7-5A002A3F49A6Q47629569-8C370484-B149-489F-B8E1-B67F1B390B64Q48017689-F2161B01-4E73-42DF-8BF7-0EE19F8940B3Q52415553-7065EADA-5C6D-41CC-948B-23527F34D759Q52842037-90EF2130-66B6-41ED-8C43-25768ACAA7F9Q58117464-D398489A-3CE9-4561-8E69-518E1F9AD77D
P2860
The cellular and physiological functions of the Lowe syndrome protein OCRL1
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@ast
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@en
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@nl
type
label
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@ast
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@en
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@nl
prefLabel
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@ast
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@en
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@nl
P2860
P3181
P356
P1433
P1476
The cellular and physiological functions of the Lowe syndrome protein OCRL1
@en
P2093
Grzegorz Pietka
Martin Lowe
P2860
P304
P3181
P356
10.1111/TRA.12160
P407
P5008
P577
2014-03-07T00:00:00Z