相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1
Xiaomin Hou et al.
EMBO JOURNAL (2011)
From Lowe Syndrome to Dent Disease: Correlations between Mutations of the OCRL1 Gene and Clinical and Biochemical Phenotypes
Haifa Hichri et al.
HUMAN MUTATION (2011)
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway
Christopher J. Noakes et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
MolProbity: all-atom structure validation for macromolecular crystallography
Vincent B. Chen et al.
ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2010)
Identification of Phosphorylation Sites within the Signaling Adaptor APPL1 by Mass Spectrometry
Randi L. Gant-Branum et al.
JOURNAL OF PROTEOME RESEARCH (2010)
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome
Susan P. Bothwell et al.
MAMMALIAN GENOME (2010)
Dali server: conservation mapping in 3D
Liisa Holm et al.
NUCLEIC ACIDS RESEARCH (2010)
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1
Laura E. Swan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
A Phosphoinositide Switch Controls the Maturation and Signaling Properties of APPL Endosomes
Roberto Zoncu et al.
CELL (2009)
A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism
Yuxin Mao et al.
EMBO JOURNAL (2009)
Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation
Adnan Yuksel et al.
JOURNAL OF CHILD NEUROLOGY (2009)
Dent-2 Disease: A Mild Variant of Lowe Syndrome
Arend Bokenkamp et al.
JOURNAL OF PEDIATRICS (2009)
Inherited cerebrorenal syndromes
Scott J. Schurman et al.
NATURE REVIEWS NEPHROLOGY (2009)
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability
Antony E. Shrimpton et al.
NEPHRON PHYSIOLOGY (2009)
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations
Enrica Tosetto et al.
PEDIATRIC NEPHROLOGY (2009)
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
Heather J. McCrea et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Renal phenotype in Lowe syndrome: A selective proximal tubular dysfunction
Detlef Bockenhauer et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
Large scale screening for novel Rab effectors reveals unexpected broad Rab binding specificity
Mitsunori Fukuda et al.
MOLECULAR & CELLULAR PROTEOMICS (2008)
A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway
Kai S. Erdmann et al.
DEVELOPMENTAL CELL (2007)
Structure of the APPL1 BAR-PH domain and characterization of its interaction with Rab5
Guangyu Zhu et al.
EMBO JOURNAL (2007)
MolProbity: all-atom contacts and structure validation for proteins and nucleic acids
Ian W. Davis et al.
NUCLEIC ACIDS RESEARCH (2007)
The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function
U. Lichter-Konecki et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases
Noora Hyvola et al.
EMBO JOURNAL (2006)
A novel domain suggests a ciliary function for ASPM, a brain size determining gene
CP Ponting
BIOINFORMATICS (2006)
Structural basis of FFAT motif-mediated ER targeting
SE Kaiser et al.
STRUCTURE (2005)
Solution structure of the E. coli TolA C-terminal domain reveals conformational changes upon binding to the phage g3p N-terminal domain
C Deprez et al.
JOURNAL OF MOLECULAR BIOLOGY (2005)
Dent disease with mutations in OCRL1
RR Hoopes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment
M Miaczynska et al.
CELL (2004)
The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin
A Ungewickell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network
A Faucherre et al.
HUMAN MOLECULAR GENETICS (2003)
Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry
MR Wenk et al.
NATURE BIOTECHNOLOGY (2003)
Purification and identification of novel Rab effectors using affinity chromatography
S Christoforidis et al.
METHODS-A COMPANION TO METHODS IN ENZYMOLOGY (2000)
Ocrl1, a Ptdlns(4.5)P2 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells
MA Dressman et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2000)