A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies

Therapeutics Based on Stop Codon Readthrough

(2014) Kim M. Keeling et al.   Annual Review of Genomics and Human Genetics

Spectrum and Risk of Neoplasia in Werner Syndrome: A Systematic Review

(2013) Julia M. Lauper et al.   PLoS One

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons

(2013) C. Kuschal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Therapeutic Approaches for Duchenne Muscular Dystrophy

(2012) Helen Foster et al.   HUMAN GENE THERAPY

Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

(2012) Alexandre Hinzpeter et al.   HUMAN MUTATION

Distinct DNA methylomes of newborns and centenarians

(2012) H. Heyn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sense from nonsense: therapies for premature stop codon diseases

(2012) Laure Bidou et al.   TRENDS IN MOLECULAR MEDICINE

Statistical Analysis of Readthrough Levels for Nonsense Mutations in Mammalian Cells Reveals a Major Determinant of Response to Gentamicin

(2012) Célia Floquet et al.   PLoS Genetics

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

(2011) M. Wilschanski et al.   EUROPEAN RESPIRATORY JOURNAL

PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

(2011) T. Goldmann et al.   HUMAN GENE THERAPY

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

(2011) Lu Tan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Specific Age-Associated DNA Methylation Changes in Human Dermal Fibroblasts

(2011) Carmen M. Koch et al.   PLoS One

Readthrough of Premature Termination Codons in the Adenomatous Polyposis Coli Gene Restores Its Biological Activity in Human Cancer Cells

(2011) Célia Floquet et al.   PLoS One

Tissue-specific dysregulation of DNA methylation in aging

(2010) Reid F. Thompson et al.   AGING CELL

Roles of Werner syndrome protein in protection of genome integrity

(2010) Marie L. Rossi et al.   DNA REPAIR

Widespread and tissue specific age-related DNA methylation changes in mice

(2010) S. Maegawa et al.   GENOME RESEARCH

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

(2010) Katrin Friedrich et al.   HUMAN GENETICS

Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides

(2010) Célia Floquet et al.   NUCLEIC ACIDS RESEARCH

Targeting post-transcriptional control for drug discovery

(2010) Stuart W. Peltz et al.   RNA Biology

Aging and Environmental Exposures Alter Tissue-Specific DNA Methylation Dependent upon CpG Island Context

(2009) Brock C. Christensen et al.   PLoS Genetics

Expression levels of Protocadherin-α transcripts are decreased by nonsense-mediated mRNA decay with frameshift mutations and by high DNA methylation in their promoter regions

(2008) Ryosuke Kaneko et al.   GENE

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

(2008) Meltem Muftuoglu et al.   HUMAN GENETICS