Literature DB >> 30623245

A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?

Julian Midgley1.   

Abstract

Entities:  

Keywords:  CTNS mutation; Children; Cystinosis; Geneticin; Genetics; Readthrough

Mesh：

Substances：

Year:  2019        PMID： 30623245     DOI： 10.1007/s00467-018-4173-2

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  26 in total

Review 1.  Introducing sense into nonsense in treatments of human genetic diseases.

Authors:  Liat Linde; Batsheva Kerem
Journal:  Trends Genet       Date:  2008-10-18       Impact factor: 11.639

Review 2.  Errors and alternatives in reading the universal genetic code.

Authors:  J Parker
Journal:  Microbiol Rev       Date:  1989-09

Review 3.  Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis.

Authors:  Aisha A Aslam; Colin Higgins; Ian P Sinha; Kevin W Southern
Journal:  Cochrane Database Syst Rev       Date:  2017-01-19

4.  Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system.

Authors:  M Manuvakhova; K Keeling; D M Bedwell
Journal:  RNA       Date:  2000-07       Impact factor: 4.942

5.  Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

Authors:  Leslie Matalonga; Ángela Arias; Frederic Tort; Xènia Ferrer-Cortés; Judit Garcia-Villoria; Maria Josep Coll; Laura Gort; Antonia Ribes
Journal:  Neurotherapeutics       Date:  2015-10       Impact factor: 7.620

Review 6.  The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

Authors:  Martijn J Wilmer; Francesco Emma; Elena N Levtchenko
Journal:  Am J Physiol Renal Physiol       Date:  2010-09-08

Review 7.  Suppression of premature termination codons as a therapeutic approach.

Authors:  Kim M Keeling; Dan Wang; Sara E Conard; David M Bedwell
Journal:  Crit Rev Biochem Mol Biol       Date:  2012-06-07       Impact factor: 8.250

8.  Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

Authors:  Craig M McDonald; Craig Campbell; Ricardo Erazo Torricelli; Richard S Finkel; Kevin M Flanigan; Nathalie Goemans; Peter Heydemann; Anna Kaminska; Janbernd Kirschner; Francesco Muntoni; Andrés Nascimento Osorio; Ulrike Schara; Thomas Sejersen; Perry B Shieh; H Lee Sweeney; Haluk Topaloglu; Már Tulinius; Juan J Vilchez; Thomas Voit; Brenda Wong; Gary Elfring; Hans Kroger; Xiaohui Luo; Joseph McIntosh; Tuyen Ong; Peter Riebling; Marcio Souza; Robert J Spiegel; Stuart W Peltz; Eugenio Mercuri
Journal:  Lancet       Date:  2017-07-17       Impact factor: 79.321

9.  PTC124 targets genetic disorders caused by nonsense mutations.

Authors:  Ellen M Welch; Elisabeth R Barton; Jin Zhuo; Yuki Tomizawa; Westley J Friesen; Panayiota Trifillis; Sergey Paushkin; Meenal Patel; Christopher R Trotta; Seongwoo Hwang; Richard G Wilde; Gary Karp; James Takasugi; Guangming Chen; Stephen Jones; Hongyu Ren; Young-Choon Moon; Donald Corson; Anthony A Turpoff; Jeffrey A Campbell; M Morgan Conn; Atiyya Khan; Neil G Almstead; Jean Hedrick; Anna Mollin; Nicole Risher; Marla Weetall; Shirley Yeh; Arthur A Branstrom; Joseph M Colacino; John Babiak; William D Ju; Samit Hirawat; Valerie J Northcutt; Langdon L Miller; Phyllis Spatrick; Feng He; Masataka Kawana; Huisheng Feng; Allan Jacobson; Stuart W Peltz; H Lee Sweeney
Journal:  Nature       Date:  2007-04-22       Impact factor: 49.962

10.  UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals.

Authors:  M Cassan; J P Rousset
Journal:  BMC Mol Biol       Date:  2001-02-27       Impact factor: 2.946
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  1 in total

1.  Caffeine boosts Ataluren's readthrough activity.

Authors:  Laura Lentini; Raffaella Melfi; Patrizia Cancemi; Ivana Pibiri; Aldo Di Leonardo
Journal:  Heliyon       Date:  2019-06-21
  1 in total

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