OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

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

How the Genetics of Deafness Illuminates Auditory Physiology

(2011) Guy P. Richardson et al.   Annual Review of Physiology

Modeling Human Disease in Humans: The Ciliopathies

(2011) Gaia Novarino et al.   CELL

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

(2011) Xiaomin Hou et al.   EMBO JOURNAL

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies

(2011) Carlos A. Murga-Zamalloa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Soluble levels of cytosolic tubulin regulate ciliary length control

(2011) Neeraj Sharma et al.   MOLECULAR BIOLOGY OF THE CELL

Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling

(2011) Michal Bohdanowicz et al.   MOLECULAR BIOLOGY OF THE CELL

Do cilia put brakes on the cell cycle?

(2011) Peter K. Jackson   NATURE CELL BIOLOGY

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

(2011) Daphné Dambournet et al.   NATURE CELL BIOLOGY

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells

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

Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

(2011) C. J. Westlake et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Multifunctional Lentiviral-Based Gene Knockdown with Concurrent Rescue that Controls for Off-Target Effects of RNAi

(2011) Yunfeng Feng et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Trafficking to the Ciliary Membrane: How to Get Across the Periciliary Diffusion Barrier?

(2010) Maxence V. Nachury et al.   Annual Review of Cell and Developmental Biology

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

(2010) Toby Hurd et al.   HUMAN MOLECULAR GENETICS

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

(2010) Christina F. Chakarova et al.   HUMAN MOLECULAR GENETICS

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

(2010) C. A. Murga-Zamalloa et al.   HUMAN MOLECULAR GENETICS

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

(2010) Tina Sedmak et al.   JOURNAL OF CELL BIOLOGY

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

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

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Stroke treatment and prevention: Five new things

(2010) T.-C. Wu et al.   NEUROLOGY

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

(2010) J. S. Friedman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

(2009) Lisa M. Ooms et al.   BIOCHEMICAL JOURNAL

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

Intraflagellar transport particle size scales inversely with flagellar length: revisiting the balance-point length control model

(2009) Benjamin D. Engel et al.   JOURNAL OF CELL BIOLOGY

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS

Primary cilia can both mediate and suppress Hedgehog pathway–dependent tumorigenesis

(2009) Sunny Y Wong et al.   NATURE MEDICINE

Inherited cerebrorenal syndromes

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

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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