Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Emerging novel concept of chaperone therapies for protein misfolding diseases

(2014) Yoshiyuki SUZUKI   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

An engineered U1 small nuclear RNA rescues splicing-defective coagulationF7gene expression in mice

(2013) D. Balestra et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides

(2012) X. Roca et al.   GENES & DEVELOPMENT

A Gene Therapeutic Approach to Correct Splice Defects with Modified U1 and U6 snRNPs

(2012) Fabian Schmid et al.   HUMAN GENE THERAPY

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

(2012) Eugenio Fernandez Alanis et al.   HUMAN MOLECULAR GENETICS

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

(2011) Tomoya Kubota et al.   HUMAN MUTATION

Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

(2011) Esther Glaus et al.   MOLECULAR THERAPY

Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC

(2011) Xiaolian Fan et al.   PLoS One

Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

(2010) Linda Hartmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

(2010) I Canals et al.   CLINICAL GENETICS

Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-GlucosaminideN-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC

(2010) Stéphanie Durand et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia

(2010) Rocío Sánchez-Alcudia et al.   MOLECULAR GENETICS AND METABOLISM

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene

(2009) MF Coutinho et al.   CLINICAL GENETICS

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

(2009) Matthew Feldhammer et al.   HUMAN MUTATION

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

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

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

(2009) Matthew Feldhammer et al.   PLoS One

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA

(2008) Gaby Tanner et al.   HUMAN MUTATION

Sanfilippo syndrome: A mini-review

(2008) M. J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE