Recognition of the F&H motif by the Lowe syndrome protein OCRL

A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1

(2011) Xiaomin Hou et al.   EMBO JOURNAL

The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway

(2011) Christopher J. Noakes et al.   MOLECULAR BIOLOGY OF THE CELL

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

Identification of Phosphorylation Sites within the Signaling Adaptor APPL1 by Mass Spectrometry

(2010) Randi L. Gant-Branum et al.   JOURNAL OF PROTEOME RESEARCH

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

(2010) Susan P. Bothwell et al.   MAMMALIAN GENOME

Dali server: conservation mapping in 3D

(2010) Liisa Holm et al.   NUCLEIC ACIDS RESEARCH

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1

(2010) Laura E. Swan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MolProbity: all-atom structure validation for macromolecular crystallography

(2009) Vincent B. Chen et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

A Phosphoinositide Switch Controls the Maturation and Signaling Properties of APPL Endosomes

(2009) Roberto Zoncu et al.   CELL

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism

(2009) Yuxin Mao et al.   EMBO JOURNAL

Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome with Novel OCRL1 Gene Mutation

(2009) Adnan Yuksel et al.   JOURNAL OF CHILD NEUROLOGY

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

Inherited cerebrorenal syndromes

(2009) Scott J. Schurman et al.   Nature Reviews Nephrology

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

(2009) Antony E. Shrimpton et al.   NEPHRON PHYSIOLOGY

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

(2009) Enrica Tosetto et al.   PEDIATRIC NEPHROLOGY

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

(2008) Heather J. McCrea et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

(2008) D. Bockenhauer et al.   Clinical Journal of the American Society of Nephrology

Large Scale Screening for Novel Rab Effectors Reveals Unexpected Broad Rab Binding Specificity

(2008) Mitsunori Fukuda et al.   MOLECULAR & CELLULAR PROTEOMICS