Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations
Authors
Keywords
Splicing mutations, Modified U1 snRNAs, Glucosamine, Sanfilippo C syndrome, Lysosomal storage disorder
Journal
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-12-10
DOI
10.1186/s13023-014-0180-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search