Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
出版年份 2010 全文链接
标题
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
作者
关键词
-
出版物
JOURNAL OF CELLULAR BIOCHEMISTRY
Volume 112, Issue 5, Pages 1250-1258
出版商
Wiley
发表日期
2010-12-28
DOI
10.1002/jcb.22979
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。- Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis
- (2010) Isabelle Sermet-Gaudelus et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- NMD: RNA biology meets human genetic medicine
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- Illuminating Insights into Firefly Luciferase and Other Bioluminescent Reporters Used in Chemical Biology
- (2010) Natasha Thorne et al. CHEMISTRY & BIOLOGY
- Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression
- (2010) Bingjing Wang et al. JOURNAL OF APPLIED PHYSIOLOGY
- Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124
- (2010) D. S. Auld et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton
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- Nonsense suppression activity of PTC124 (ataluren)
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- Reply to Peltz et al: Post-translational stabilization of the firefly luciferase reporter by PTC124 (Ataluren)
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- Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression
- (2009) D. S. Auld et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders
- (2008) Wing Yan Yik et al. HUMAN MUTATION
- Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
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- PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
- (2008) M. Du et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Aminoglycoside induced ototoxicity
- (2008) O’neil W. Guthrie TOXICOLOGY
- Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases
- (2007) Mariana Hainrichson et al. ORGANIC & BIOMOLECULAR CHEMISTRY
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