A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies

(2014) Arunkanth Ankala et al.   MUSCLE & NERVE

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

(2014) Kavitha Siva et al.   Nucleic Acid Therapeutics

Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle

(2014) Jaclyn P. Kerr et al.   Frontiers in Physiology

Eteplirsen for the treatment of Duchenne muscular dystrophy

(2013) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

The C2 Domains of Otoferlin, Dysferlin, and Myoferlin Alter the Packing of Lipid Bilayers

(2013) Naomi J. Marty et al.   BIOCHEMISTRY

Update on the Treatment of Duchenne Muscular Dystrophy

(2013) Louise R. Rodino-Klapac et al.   Current Neurology and Neuroscience Reports

In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

(2013) Lorea Blázquez et al.   HUMAN MUTATION

Muscular dystrophy in dysferlin-deficient mouse models

(2013) Mark A. Hornsey et al.   NEUROMUSCULAR DISORDERS

Modular Dispensability of Dysferlin C2 Domains Reveals Rational Design for Mini-dysferlin Molecules

(2012) Bilal A. Azakir et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

(2011) Mouna Messaoud Khelifi et al.   HUMAN MUTATION

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

(2011) Gaelle Blandin et al.   HUMAN MUTATION

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

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(2011) Florian Barthelemy et al.   MOLECULAR MEDICINE

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

(2011) Nathalie M. Goemans et al.   NEW ENGLAND JOURNAL OF MEDICINE

Bcl-2 Inhibits the Innate Immune Response during Early Pathogenesis of Murine Congenital Muscular Dystrophy

(2011) Sheila Jeudy et al.   PLoS One

Dysferlin Forms a Dimer Mediated by the C2 Domains and the Transmembrane Domain In Vitro and in Living Cells

(2011) Li Xu et al.   PLoS One

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

(2011) Angela Lek et al.   TRAFFIC

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population

(2011) Guido Stadler et al.   Skeletal Muscle

Therapeutic exon skipping for dysferlinopathies?

(2010) Annemieke Aartsma-Rus et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies

(2010) Ashish Dhir et al.   FEBS Journal

Antisense Modulation of Both Exonic and Intronic Splicing Motifs Induces Skipping of a DMD Pseudo-Exon Responsible for X-Linked Dilated Cardiomyopathy

(2010) Paola Rimessi et al.   HUMAN GENE THERAPY

Proinflammatory Signals and the Loss of Lymphatic Vessel Hyaluronan Receptor-1 (LYVE-1) in the Early Pathogenesis of Laminin Alpha2-deficient Skeletal Muscle

(2010) Katherine E. Wardrop et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

(2010) Lars Klinge et al.   MUSCLE & NERVE

PCRTiler: automated design of tiled and specific PCR primer pairs

(2010) Alain L. Gervais et al.   NUCLEIC ACIDS RESEARCH

Characterization of Lipid Binding Specificities of Dysferlin C2 Domains Reveals Novel Interactions with Phosphoinositides†

(2009) Christian Therrien et al.   BIOCHEMISTRY

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

(2009) Zacharias Aloysius Dwi Pramono et al.   HUMAN GENETICS

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

(2009) Nicolas Wein et al.   HUMAN MUTATION

Membrane Repair Defects in Muscular Dystrophy Are Linked to Altered Interaction between MG53, Caveolin-3, and Dysferlin

(2009) Chuanxi Cai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy

(2008) E. Kimura et al.   HUMAN MOLECULAR GENETICS

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis

(2008) L. Blázquez et al.   NEUROGENETICS

DMDpseudoexon mutations: splicing efficiency, phenotype, and potential therapy

(2007) Olga L. Gurvich et al.   ANNALS OF NEUROLOGY