Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins

(2020) Kayalvizhi Madhivanan et al.   HUMAN MOLECULAR GENETICS

Scalable molecular dynamics on CPU and GPU architectures with NAMD

(2020) James C. Phillips et al.   JOURNAL OF CHEMICAL PHYSICS

Golgi Fragmentation in Neurodegenerative Diseases: Is There a Common Cause?

(2019) José Ángel Martínez-Menárguez et al.   Cells

Golgi Complex Dynamics and Its Implication in Prevalent Neurological Disorders

(2019) Mario O. Caracci et al.   Frontiers in Cell and Developmental Biology

Kidney-differentiated cells derived from Lowe Syndrome patient’s iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex

(2018) Wen-Chieh Hsieh et al.   PLoS One

CHARMM-GUI Membrane Builder for Complex Biological Membrane Simulations with Glycolipids and Lipoglycans

(2018) Jumin Lee et al.   Journal of Chemical Theory and Computation

Alterations of Golgi organization in Alzheimer’s disease: A cause or a consequence?

(2017) Inmaculada Ayala et al.   TISSUE & CELL

Misfolded polypeptides are selectively recognized and transported toward aggresomes by a CED complex

(2017) Joori Park et al.   Nature Communications

Structural basis for interdomain communication in SHIP2 providing high phosphatase activity

(2017) Johanne Le Coq et al.   eLife

Crystal Structures of Type-II Inositol Polyphosphate 5-Phosphatase INPP5B with Synthetic Inositol Polyphosphate Surrogates Reveal New Mechanistic Insights for the Inositol 5-Phosphatase Family

(2016) Stephen J. Mills et al.   BIOCHEMISTRY

The benefits of local depletion: The centrosome as a scaffold for ubiquitin-proteasome-mediated degradation

(2016) Setu M. Vora et al.   CELL CYCLE

The oculocerebrorenal syndrome of Lowe: an update

(2016) Arend Bökenkamp et al.   PEDIATRIC NEPHROLOGY

Beyond Bar and Line Graphs: Time for a New Data Presentation Paradigm

(2015) Tracey L. Weissgerber et al.   PLOS BIOLOGY

Modulation of the Secretory Pathway Rescues Zebrafish Polycystic Kidney Disease Pathology

(2014) S. Le Corre et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Human Diseases Associated with Form and Function of the Golgi Complex

(2013) Mariana Bexiga et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Golgin-84-associated Golgi fragmentation triggers tau hyperphosphorylation by activation of cyclin-dependent kinase-5 and extracellular signal-regulated kinase

(2013) Qian Jiang et al.   NEUROBIOLOGY OF AGING

The NF-κB Signaling Protein Bcl10 Regulates Actin Dynamics by Controlling AP1 and OCRL-Bearing Vesicles

(2012) Sabrina Marion et al.   DEVELOPMENTAL CELL

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

Optimization of the Additive CHARMM All-Atom Protein Force Field Targeting Improved Sampling of the Backbone ϕ, ψ and Side-Chain χ1 and χ2 Dihedral Angles

(2012) Robert B. Best et al.   Journal of Chemical Theory and Computation

OCRL1 Modulates Cilia Length in Renal Epithelial Cells

(2012) Youssef Rbaibi et al.   TRAFFIC

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL

(2012) Michelle Pirruccello et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

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

(2011) Xiaomin Hou et al.   EMBO JOURNAL

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

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

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

(2011) Michelle Pirruccello et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Golgin Coiled-Coil Proteins of the Golgi Apparatus

(2011) S. Munro   Cold Spring Harbor Perspectives in Biology

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

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

Interaction of Golgin-84 with the COG Complex Mediates the Intra-Golgi Retrograde Transport

(2010) Miwa Sohda et al.   TRAFFIC

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

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

Aggresome Formation and Neurodegenerative Diseases: Therapeutic Implications

(2008) L. Chin et al.   CURRENT MEDICINAL CHEMISTRY

Golgi apparatus and neurodegenerative diseases

(2008) Jie Fan et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE