Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

Cell Penetrating Peptide Delivery of Splice Directing Oligonucleotides as a Treatment for Duchenne Muscular Dystrophy

(2013) Corinne A. Betts et al.   CURRENT PHARMACEUTICAL DESIGN

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

(2013) C. Rosnoblet et al.   HUMAN MOLECULAR GENETICS

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

(2013) D. Demaegd et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA splicing for disease therapy

(2013) Mallory A. Havens et al.   Wiley Interdisciplinary Reviews-RNA

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

(2012) Sarah E. Flanagan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial

(2012) Maartje E. Visser et al.   EUROPEAN HEART JOURNAL

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

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

(2012) T. R. Webb et al.   HUMAN MOLECULAR GENETICS

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

(2011) F. G. Osorio et al.   Science Translational Medicine

Congenital disorders of glycosylation

(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

Present and future of antisense therapy for splicing modulation in inherited metabolic disease

(2010) Belen Pérez et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial

(2010) Frederick J Raal et al.   LANCET

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

(2009) B. Pérez et al.   HUMAN MUTATION

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

(2009) Ana I. Vega et al.   HUMAN MUTATION

Glycosylation diseases: Quo vadis?

(2008) Harry Schachter et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A deep intronic mutation inFGBcreates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment

(2008) Ryan L. Davis et al.   HUMAN MUTATION