All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
about
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeEmerging roles for the FSH receptor adapter protein APPL1 and overlap of a putative 14-3-3τ interaction domain with a canonical G-protein interaction siteA PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolismTwo closely related endocytic proteins that share a common OCRL-binding motif with APPL1Differential clathrin binding and subcellular localization of OCRL1 splice isoformsRecognition of the F&H; motif by the Lowe syndrome protein OCRLSac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.APPL proteins FRET at the BAR: direct observation of APPL1 and APPL2 BAR domain-mediated interactions on cell membranes using FRET microscopyImpaired neural development in a zebrafish model for Lowe syndromeAppl1 is dispensable for mouse development, and loss of Appl1 has growth factor-selective effects on Akt signaling in murine embryonic fibroblastsOcular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype AnalysisPhosphoinositide phosphatases in cell biology and disease.Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe SyndromeMouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.Mutations in phosphoinositide metabolizing enzymes and human disease.Clinical utility gene card for: Lowe syndromeRegulation of Golgi function via phosphoinositide lipids.Dent's disease: clinical features and molecular basis.Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.Phosphatidylinositol 4-kinases and PI4P metabolism in the nervous system: roles in psychiatric and neurological diseases.Cell biology and physiology of CLC chloride channels and transporters.The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.Biochemical characterization of APPL endosomes: the role of annexin A2 in APPL membrane recruitment.Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells
P2860
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P2860
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
description
2008 nî lūn-bûn
@nan
2008 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
All known patient mutations in ...... ct targeting and APPL1 binding
@ast
All known patient mutations in ...... ct targeting and APPL1 binding
@en
All known patient mutations in ...... ct targeting and APPL1 binding
@nl
type
label
All known patient mutations in ...... ct targeting and APPL1 binding
@ast
All known patient mutations in ...... ct targeting and APPL1 binding
@en
All known patient mutations in ...... ct targeting and APPL1 binding
@nl
prefLabel
All known patient mutations in ...... ct targeting and APPL1 binding
@ast
All known patient mutations in ...... ct targeting and APPL1 binding
@en
All known patient mutations in ...... ct targeting and APPL1 binding
@nl
P2093
P2860
P921
P1476
All known patient mutations in ...... ct targeting and APPL1 binding
@en
P2093
Heather J McCrea
Livia Tomasini
Maria Addis
Maria Antonietta Melis
Summer Paradise
P2860
P356
10.1016/J.BBRC.2008.02.067
P407
P577
2008-05-02T00:00:00Z