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

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

(2015) Francesca Oltrabella et al.   PLoS Genetics

Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases

(2014) Marcel Veltrop et al.   EXPERIMENTAL CELL RESEARCH

New developments in exon skipping and splice modulation therapies for neuromuscular diseases

(2014) Aleksander Touznik et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

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

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

(2014) Florian Recker et al.   PEDIATRIC NEPHROLOGY

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

(2014) Kavitha Siva et al.   Nucleic Acid Therapeutics

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

(2014) Ramiro Nández et al.   eLife

Development of noninvasive prenatal diagnosis of trisomy 21 by RT-MLPA with a new set of SNP markers

(2013) Pei-qiong Li et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

190-kb duplication in 1p36.11 includingPIGVandARID1Agenes in a girl with intellectual disability and hexadactyly

(2013) C Coutton et al.   CLINICAL GENETICS

Rescue of cardiomyopathy through U7snRNA-mediated exon skipping inMybpc3-targeted knock-in mice

(2013) Christina Gedicke-Hornung et al.   EMBO Molecular Medicine

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

(2013) John Rendu et al.   HUMAN GENE THERAPY

Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial

(2013) Kevin M. Flanigan et al.   NEUROMUSCULAR DISORDERS

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

Duplication ofOCRLand adjacent genes associated with autism but not Lowe syndrome

(2012) Richard J. Schroer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)

(2012) Simona Cavalieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

(2012) Brian G. Coon 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

Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

An Overview of Sugar-Modified Oligonucleotides for Antisense Therapeutics

(2011) Thazha P. Prakash   CHEMISTRY & BIODIVERSITY

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

(2011) Mariella Vicinanza et al.   EMBO JOURNAL

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

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

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

X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice

(2010) David J. Bernard et al.   MAMMALIAN GENOME

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

Enhanced Exon-skipping Induced by U7 snRNA Carrying a Splicing Silencer Sequence: Promising Tool for DMD Therapy

(2009) Aurélie Goyenvalle et al.   MOLECULAR THERAPY

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

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY