Impaired neural development in a zebrafish model for Lowe syndrome

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

(2012) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

Recruitment of Actin Modifiers to TrkA Endosomes Governs Retrograde NGF Signaling and Survival

(2011) Anthony W. Harrington et al.   CELL

The Inositol 5-Phosphatase dOCRL Controls PI(4,5)P2 Homeostasis and Is Necessary for Cytokinesis

(2011) Khaled Ben El Kadhi et al.   CURRENT BIOLOGY

OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin

(2011) Mariella Vicinanza 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

Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis

(2011) Daphné Dambournet et al.   NATURE CELL BIOLOGY

Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells

(2011) Adam G. Grieve et al.   PLoS One

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA

(2011) N. Haud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

(2010) S. P. Bothwell et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death

(2010) Junko Sasaki et al.   NATURE

Dent's disease

(2010) Olivier Devuyst et al.   Orphanet Journal of Rare Diseases

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

Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life

(2009) Arnolfo de Carvalho-Neto et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

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

(2009) Yuxin Mao et al.   EMBO JOURNAL

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

(2009) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

Differential Clathrin Binding and Subcellular Localization of OCRL1 Splice Isoforms

(2009) Rawshan Choudhury et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

The Endosomal Protein Appl1 Mediates Akt Substrate Specificity and Cell Survival in Vertebrate Development

(2008) Annette Schenck et al.   CELL

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

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