Literature DB >> 10449426

Correction of genetic disease by making sense from nonsense.

R J Kaufman1.   

Abstract

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Year:  1999        PMID： 10449426      PMCID： PMC408532          DOI： 10.1172/JCI8055

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  23 in total

Review 1.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.

Authors:  E Nagy; L E Maquat
Journal:  Trends Biochem Sci       Date:  1998-06       Impact factor: 13.807

2.  Interaction of antibiotics with functional sites in 16S ribosomal RNA.

Authors:  D Moazed; H F Noller
Journal:  Nature       Date:  1987 Jun 4-10       Impact factor: 49.962

3.  Basis for prokaryotic specificity of action of aminoglycoside antibiotics.

Authors:  M I Recht; S Douthwaite; J D Puglisi
Journal:  EMBO J       Date:  1999-06-01       Impact factor: 11.598

4.  Expression of the murine Duchenne muscular dystrophy gene in muscle and brain.

Authors:  J S Chamberlain; J A Pearlman; D M Muzny; R A Gibbs; J E Ranier; C T Caskey; A A Reeves
Journal:  Science       Date:  1988-03-18       Impact factor: 47.728

5.  Aminoglycoside antibiotics and eukaryotic protein synthesis: stimulation of errors in the translation of natural messengers in extracts of cultured human cells.

Authors:  J M Wilhelm; J J Jessop; S E Pettitt
Journal:  Biochemistry       Date:  1978-04-04       Impact factor: 3.162

6.  Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice.

Authors:  E R Barton-Davis; L Cordier; D I Shoturma; S E Leland; H L Sweeney
Journal:  J Clin Invest       Date:  1999-08       Impact factor: 14.808

7.  Binding of neomycin-class aminoglycoside antibiotics to the A-site of 16 S rRNA.

Authors:  D Fourmy; M I Recht; J D Puglisi
Journal:  J Mol Biol       Date:  1998-03-27       Impact factor: 5.469

8.  Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line.

Authors:  D M Bedwell; A Kaenjak; D J Benos; Z Bebok; J K Bubien; J Hong; A Tousson; J P Clancy; E J Sorscher
Journal:  Nat Med       Date:  1997-11       Impact factor: 53.440

9.  Infrequent translation of a nonsense codon is sufficient to decrease mRNA level.

Authors:  A Buzina; M J Shulman
Journal:  Mol Biol Cell       Date:  1999-03       Impact factor: 4.138

10.  Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin.

Authors:  J F Burke; A E Mogg
Journal:  Nucleic Acids Res       Date:  1985-09-11       Impact factor: 16.971
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  19 in total

1.  Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations.

Authors:  Francesca Salvatori; Vera Cantale; Giulia Breveglieri; Cristina Zuccato; Alessia Finotti; Nicoletta Bianchi; Monica Borgatti; Giordana Feriotto; Federica Destro; Alessandro Canella; Laura Breda; Stefano Rivella; Roberto Gambari
Journal:  Biotechnol Appl Biochem       Date:  2009-07-09       Impact factor: 2.431

2.  When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy.

Authors:  Moran Shalev; Timor Baasov
Journal:  Medchemcomm       Date:  2014-08-01       Impact factor: 3.597

Review 3.  New developments in aminoglycoside therapy and ototoxicity.

Authors:  Jing Xie; Andra E Talaska; Jochen Schacht
Journal:  Hear Res       Date:  2011-05-27       Impact factor: 3.208

4.  Structure-Activity Relationship Studies of 3-epi-Deoxynegamycin Derivatives as Potent Readthrough Drug Candidates.

Authors:  Keisuke Hamada; Akihiro Taguchi; Masaya Kotake; Suguru Aita; Saori Murakami; Kentaro Takayama; Fumika Yakushiji; Yoshio Hayashi
Journal:  ACS Med Chem Lett       Date:  2015-05-11       Impact factor: 4.345

Review 5.  Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

Authors:  Christophe Pichavant; Annemieke Aartsma-Rus; Paula R Clemens; Kay E Davies; George Dickson; Shin'ichi Takeda; Steve D Wilton; Jon A Wolff; Christine I Wooddell; Xiao Xiao; Jacques P Tremblay
Journal:  Mol Ther       Date:  2011-04-05       Impact factor: 11.454

Review 6.  Molecular therapeutic strategies targeting Duchenne muscular dystrophy.

Authors:  Jerry R Mendell; Louise R Rodino-Klapac; Vinod Malik
Journal:  J Child Neurol       Date:  2010-05-24       Impact factor: 1.987

7.  The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.

Authors:  Xuan Huang; Mengnan Tian; Ciria C Hernandez; Ningning Hu; Robert L Macdonald
Journal:  Neurobiol Dis       Date:  2012-06-30       Impact factor: 5.996

8.  In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.

Authors:  Samuel Bellais; Carine Le Goff; Nathalie Dagoneau; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

Review 9.  Cisplatin and aminoglycoside antibiotics: hearing loss and its prevention.

Authors:  Jochen Schacht; Andra E Talaska; Leonard P Rybak
Journal:  Anat Rec (Hoboken)       Date:  2012-10-08       Impact factor: 2.064

10.  Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.

Authors:  Igor Nudelman; Annie Rebibo-Sabbah; Marina Cherniavsky; Valery Belakhov; Mariana Hainrichson; Fuquan Chen; Jochen Schacht; Daniel S Pilch; Tamar Ben-Yosef; Timor Baasov
Journal:  J Med Chem       Date:  2009-05-14       Impact factor: 7.446
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