The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease

(2017) Sarah S. Gabriel et al.   KIDNEY INTERNATIONAL

Autophagy in the lens

(2016) Hideaki Morishita et al.   EXPERIMENTAL EYE RESEARCH

Functional Characterization and Rescue of a Deep Intronic Mutation inOCRLGene Responsible for Lowe Syndrome

(2016) John Rendu et al.   HUMAN MUTATION

Kidney Tubular Ablation ofOcrl/Inpp5bPhenocopies Lowe Syndrome Tubulopathy

(2016) Kazunori Inoue et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule

(2016) Sara Terryn et al.   KIDNEY INTERNATIONAL

OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates

(2016) Peter G. Billcliff et al.   MOLECULAR BIOLOGY OF THE CELL

Autophagosome–lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL

(2016) Maria Giovanna De Leo et al.   NATURE CELL BIOLOGY

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

(2016) Stephanie Cherqui et al.   Nature Reviews Nephrology

Autophagy and Tubular Cell Death in the Kidney

(2016) Andrea Havasi et al.   SEMINARS IN NEPHROLOGY

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

(2016) Cristian Pattaro et al.   Nature Communications

Toll-like Receptor 9 Can be Activated by Endogenous Mitochondrial DNA to Induce Podocyte Apoptosis

(2016) Wenduona Bao et al.   Scientific Reports

The primary cilium as sensor of fluid flow: new building blocks to the model. A Review in the Theme: Cell Signaling: Proteins, Pathways and Mechanisms

(2015) Helle A. Praetorius   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis

(2015) FoSheng Hsu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

PIP kinases define PI4,5P2 signaling specificity by association with effectors

(2015) Suyong Choi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mendelian disorders of PI metabolizing enzymes

(2015) Leopoldo Staiano et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface

(2015) Gagan D. Gupta et al.   CELL

A Human Interactome in Three Quantitative Dimensions Organized by Stoichiometries and Abundances

(2015) Marco Y. Hein et al.   CELL

The BioPlex Network: A Systematic Exploration of the Human Interactome

(2015) Edward L. Huttlin et al.   CELL

Cellular functions of Rab GTPases at a glance

(2015) Y. Zhen et al.   JOURNAL OF CELL SCIENCE

Impaired Lysosomal Function Underlies Monoclonal Light Chain-Associated Renal Fanconi Syndrome

(2015) A. Luciani et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation

(2015) K. B. Emdal et al.   Science Signaling

The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric Tubule

(2015) Francesca Oltrabella et al.   PLoS Genetics

A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning

(2015) Koray Kırlı et al.   eLife

Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation

(2015) K. B. Emdal et al.   Science Signaling

Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin

(2015) Ekaterina A. Ivanova et al.   PLoS One

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

(2014) R. Montjean et al.   HUMAN MOLECULAR GENETICS

Proteomic Analysis and Identification of Cellular Interactors of the Giant Ubiquitin Ligase HERC2

(2014) Jeffrey T. Galligan et al.   JOURNAL OF PROTEOME RESEARCH

The Proximal Tubule and Albuminuria: Really!

(2014) L. E. Dickson et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Rare inherited kidney diseases: challenges, opportunities, and perspectives

(2014) Olivier Devuyst et al.   LANCET

Muscle involvement in Dent disease 2

(2014) Eujin Park et al.   PEDIATRIC NEPHROLOGY

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

(2014) Florian Recker et al.   PEDIATRIC NEPHROLOGY

Primary cilia signaling mediates intraocular pressure sensation

(2014) N. Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Endocytic Accessory Factors and Regulation of Clathrin-Mediated Endocytosis

(2014) C. J. Merrifield et al.   Cold Spring Harbor Perspectives in Biology

Association of CHMP4B and Autophagy with Micronuclei: Implications for Cataract Formation

(2014) Antonia P. Sagona et al.   Biomed Research International

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

(2014) Ramiro Nández et al.   eLife

Albumin Is Recycled from the Primary Urine by Tubular Transcytosis

(2013) V. Tenten et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Evolving importance of kidney disease: from subspecialty to global health burden

(2013) Kai-Uwe Eckardt et al.   LANCET

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe

(2013) Na Luo et al.   PLoS One

Chloride in Vesicular Trafficking and Function

(2012) Tobias Stauber et al.   Annual Review of Physiology

The Hairpin-type Tail-Anchored SNARE Syntaxin 17 Targets to Autophagosomes for Fusion with Endosomes/Lysosomes

(2012) Eisuke Itakura et al.   CELL

Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins

(2012) Alfredo Castello et al.   CELL

Endocytosis Genes Facilitate Protein and Membrane Transport in C. elegans Sensory Cilia

(2012) Oktay I. Kaplan et al.   CURRENT BIOLOGY

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

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

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

(2012) Vanessa A. van Rahden et al.   HUMAN MOLECULAR GENETICS

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

(2012) Na Luo et al.   HUMAN MOLECULAR GENETICS

Coordination between RAB GTPase and phosphoinositide regulation and functions

(2012) Steve Jean et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Phosphoinositide isoforms determine compartment-specific ion channel activity

(2012) X. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

OCRL1 Modulates Cilia Length in Renal Epithelial Cells

(2012) Youssef Rbaibi et al.   TRAFFIC

Chaperone-mediated autophagy: a unique way to enter the lysosome world

(2012) Susmita Kaushik et al.   TRENDS IN CELL BIOLOGY

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

(2011) Mariella Vicinanza et al.   EMBO JOURNAL

Impaired neural development in a zebrafish model for Lowe syndrome

(2011) Irene Barinaga-Rementeria Ramirez et al.   HUMAN MOLECULAR GENETICS

Autophagy Protects the Proximal Tubule from Degeneration and Acute Ischemic Injury

(2011) T. Kimura et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

CUBN Is a Gene Locus for Albuminuria

(2011) C. A. Boger et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

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

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

(2011) Daphné Dambournet et al.   NATURE CELL BIOLOGY

short report: Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

(2010) Dominique Lasne et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

The primary cilium at a glance

(2010) P. Satir et al.   JOURNAL OF CELL SCIENCE

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 role of pattern-recognition receptors in innate immunity: update on Toll-like receptors

(2010) Taro Kawai et al.   NATURE IMMUNOLOGY

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Tubular toxicity of proteinuria

(2010) Richard J. Baines et al.   Nature Reviews Nephrology

Dent's disease

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

Proteinuria and events beyond the slit

(2010) Rikke Nielsen et al.   PEDIATRIC NEPHROLOGY

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

Coordination of Rab8 and Rab11 in primary ciliogenesis

(2010) A. Knodler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The delivery of endocytosed cargo to lysosomes: Figure 1

(2009) J. Paul Luzio et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

(2009) Yuxin Mao et al.   EMBO JOURNAL

Ubiquitin-mediated proteolysis of HuR by heat shock

(2009) Kotb Abdelmohsen 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

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

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

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Fanconi or not Fanconi? Lowe Syndrome Revisited

(2008) R. Kleta   Clinical Journal of the American Society of Nephrology

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

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

Autophagic dysfunction in mucolipidosis type IV patients

(2008) Silvia Vergarajauregui et al.   HUMAN MOLECULAR GENETICS

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

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

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE

Physiological roles of CLC Cl−/H+ exchangers in renal proximal tubules

(2008) Vanessa Plans et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY