Glutathione peroxidase-1 in health and disease: from molecular mechanisms to therapeutic opportunities
E Lubos, J Loscalzo, DE Handy - 2011 - liebertpub.com
Reactive oxygen species, such as superoxide and hydrogen peroxide, are generated in all
cells by mitochondrial and enzymatic sources. Left unchecked, these reactive species can …
cells by mitochondrial and enzymatic sources. Left unchecked, these reactive species can …
Nonsense-mediated decay approaches the clinic
JA Holbrook, G Neu-Yilik, MW Hentze, AE Kulozik - Nature genetics, 2004 - nature.com
Nonsense-mediated decay (NMD) eliminates mRNAs containing premature termination
codons and thus helps limit the synthesis of abnormal proteins. New results uncover a …
codons and thus helps limit the synthesis of abnormal proteins. New results uncover a …
[HTML][HTML] Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis and CFTR Stop Mutations
M Wilschanski, Y Yahav, Y Yaacov… - … England Journal of …, 2003 - Mass Medical Soc
Background Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)
gene containing a premature termination signal cause a deficiency or absence of functional …
gene containing a premature termination signal cause a deficiency or absence of functional …
Nonsense-mediated decay in genetic disease: friend or foe?
JN Miller, DA Pearce - Mutation Research/Reviews in Mutation Research, 2014 - Elsevier
Eukaryotic cells utilize various RNA quality control mechanisms to ensure high fidelity of
gene expression, thus protecting against the accumulation of nonfunctional RNA and the …
gene expression, thus protecting against the accumulation of nonfunctional RNA and the …
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
L Linde, S Boelz, M Nissim-Rafinia… - The Journal of …, 2007 - Am Soc Clin Investig
Aminoglycosides can readthrough premature termination codons (PTCs), permitting
translation of full-length proteins. Previously we have found variable efficiency of …
translation of full-length proteins. Previously we have found variable efficiency of …
Identity and regulation of ion transport mechanisms in the corneal endothelium
JA Bonanno - Progress in retinal and eye research, 2003 - Elsevier
Corneal transparency is dependent on regulation of the hydration of the corneal stroma.
Water is driven into the cornea across the epithelial and endothelial cell layers by the …
Water is driven into the cornea across the epithelial and endothelial cell layers by the …
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
M Du, X Liu, EM Welch, S Hirawat… - Proceedings of the …, 2008 - National Acad Sciences
Nonsense mutations inactivate gene function and are the underlying cause of a large
percentage of the individual cases of many genetic disorders. PTC124 is an orally …
percentage of the individual cases of many genetic disorders. PTC124 is an orally …
NMD: RNA biology meets human genetic medicine
M Bhuvanagiri, AM Schlitter, MW Hentze… - Biochemical …, 2010 - portlandpress.com
NMD (nonsense-mediated mRNA decay) belongs to the best-studied mRNA surveillance
systems of the cell, limiting the synthesis of truncated and potentially harmful proteins on the …
systems of the cell, limiting the synthesis of truncated and potentially harmful proteins on the …
Introducing sense into nonsense in treatments of human genetic diseases
L Linde, B Kerem - Trends in genetics, 2008 - cell.com
Approximately one-third of alleles causing genetic diseases carry premature termination
codons (PTCs), which lead to the production of truncated proteins. The past decade has …
codons (PTCs), which lead to the production of truncated proteins. The past decade has …
Pharmaceutical therapies to recode nonsense mutations in inherited diseases
HLR Lee, JP Dougherty - Pharmacology & therapeutics, 2012 - Elsevier
Nonsense codons, generated from nonsense mutations or frameshifts, contribute
significantly to the spectrum of inherited human diseases such as cystic fibrosis, Duchenne …
significantly to the spectrum of inherited human diseases such as cystic fibrosis, Duchenne …