Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency
出版年份 2011 全文链接
标题
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency
作者
关键词
-
出版物
HUMAN MUTATION
Volume 32, Issue 9, Pages 1019-1027
出版商
Wiley
发表日期
2011-05-04
DOI
10.1002/humu.21529
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Tetrahydrobiopterin: biochemistry and pathophysiology
- (2013) Ernst R. Werner et al. BIOCHEMICAL JOURNAL
- RNA-targeted splice-correction therapy for neuromuscular disease
- (2010) M. J. A. Wood et al. BRAIN
- Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies
- (2010) Ashish Dhir et al. FEBS Journal
- Present and future of antisense therapy for splicing modulation in inherited metabolic disease
- (2010) Belen Pérez et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Transposable elements in disease-associated cryptic exons
- (2009) Igor Vorechovsky HUMAN 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
- Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisenseAlulacking the poly(T)-tail
- (2009) David Meili et al. HUMAN MUTATION
- Disorders of biopterin metabolism
- (2009) Nicola Longo JOURNAL OF INHERITED METABOLIC DISEASE
- Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
- (2009) Maria Kinali et al. LANCET NEUROLOGY
- Orally delivered siRNA targeting macrophage Map4k4 suppresses systemic inflammation
- (2009) Myriam Aouadi et al. NATURE
- Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
- (2009) Ángel Raya et al. NATURE
- Design and Synthesis of Dendritic Molecular Transporter that Achieves Efficientin VivoDelivery of Morpholino Antisense Oligo
- (2008) Yong-Fu Li et al. BIOCONJUGATE CHEMISTRY
- Developing drugs that can cross the blood-brain barrier: applications to Alzheimer's disease
- (2008) William A Banks BMC NEUROSCIENCE
- Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms
- (2008) Annemieke Aartsma-Rus et al. MOLECULAR THERAPY
- Improved cell-penetrating peptide–PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle
- (2008) Gabriela D. Ivanova et al. NUCLEIC ACIDS RESEARCH
- In vivo correction of a Menkes disease model using antisense oligonucleotides
- (2008) E. C. Madsen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- DMDpseudoexon mutations: splicing efficiency, phenotype, and potential therapy
- (2007) Olga L. Gurvich et al. ANNALS OF NEUROLOGY
- Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
- (2007) Leandra Jäggi et al. MOLECULAR GENETICS AND METABOLISM
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now