Literature DB >> 30011228

Ataluren, a New Therapeutic for Alpha-1 Antitrypsin-Deficient Individuals with Nonsense Mutations.

Emer P Reeves1, Ciara A O'Dwyer1, Danielle M Dunlea1, Mark R Wormald2, Padraig Hawkins1, Mohammad Alfares1, Darrell N Kotton3, Steven M Rowe4, Andrew A Wilson3, Noel G McElvaney1.   

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Year:  2018        PMID： 30011228      PMCID： PMC6221570          DOI： 10.1164/rccm.201802-0338LE

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  9 in total

1.  Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.

Authors:  Valérie Allamand; Laure Bidou; Masayuki Arakawa; Célia Floquet; Masataka Shiozuka; Marion Paturneau-Jouas; Corine Gartioux; Gillian S Butler-Browne; Vincent Mouly; Jean-Pierre Rousset; Ryoichi Matsuda; Daishiro Ikeda; Pascale Guicheney
Journal:  J Gene Med       Date:  2008-02       Impact factor: 4.565

2.  Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial.

Authors:  Kenneth R Chapman; Jonathan G W Burdon; Eeva Piitulainen; Robert A Sandhaus; Niels Seersholm; James M Stocks; Berend C Stoel; Liping Huang; Zhenling Yao; Jonathan M Edelman; Noel G McElvaney
Journal:  Lancet       Date:  2015-05-27       Impact factor: 79.321

3.  Long-term efficacy and safety of α1 proteinase inhibitor treatment for emphysema caused by severe α1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE).

Authors:  Noel G McElvaney; Jonathan Burdon; Mark Holmes; Allan Glanville; Peter A B Wark; Philip J Thompson; Paul Hernandez; Jan Chlumsky; Helmut Teschler; Joachim H Ficker; Niels Seersholm; Alan Altraja; Riitta Mäkitaro; Joanna Chorostowska-Wynimko; Marek Sanak; Paul I Stoicescu; Eeva Piitulainen; Oliver Vit; Marion Wencker; Michael A Tortorici; Michael Fries; Jonathan M Edelman; Kenneth R Chapman
Journal:  Lancet Respir Med       Date:  2016-12-02       Impact factor: 30.700

4.  Emergence of a stage-dependent human liver disease signature with directed differentiation of alpha-1 antitrypsin-deficient iPS cells.

Authors:  Andrew A Wilson; Lei Ying; Marc Liesa; Charis-Patricia Segeritz; Jason A Mills; Steven S Shen; Jyhchang Jean; Geordie C Lonza; Derek C Liberti; Alex H Lang; Jean Nazaire; Adam C Gower; Franz-Josef Müeller; Pankaj Mehta; Adriana Ordóñez; David A Lomas; Ludovic Vallier; George J Murphy; Gustavo Mostoslavsky; Avrum Spira; Orian S Shirihai; Maria I Ramirez; Paul Gadue; Darrell N Kotton
Journal:  Stem Cell Reports       Date:  2015-04-02       Impact factor: 7.765

5.  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

6.  A meta-analysis of nonsense mutations causing human genetic disease.

Authors:  Matthew Mort; Dobril Ivanov; David N Cooper; Nadia A Chuzhanova
Journal:  Hum Mutat       Date:  2008-08       Impact factor: 4.878

7.  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

8.  Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial.

Authors:  Eitan Kerem; Michael W Konstan; Kris De Boeck; Frank J Accurso; Isabelle Sermet-Gaudelus; Michael Wilschanski; J Stuart Elborn; Paola Melotti; Inez Bronsveld; Isabelle Fajac; Anne Malfroot; Daniel B Rosenbluth; Patricia A Walker; Susanna A McColley; Christiane Knoop; Serena Quattrucci; Ernst Rietschel; Pamela L Zeitlin; Jay Barth; Gary L Elfring; Ellen M Welch; Arthur Branstrom; Robert J Spiegel; Stuart W Peltz; Temitayo Ajayi; Steven M Rowe
Journal:  Lancet Respir Med       Date:  2014-05-15       Impact factor: 30.700

9.  Identification and characterisation of eight novel SERPINA1 Null mutations.

Authors:  Ilaria Ferrarotti; Tomás P Carroll; Stefania Ottaviani; Anna M Fra; Geraldine O'Brien; Kevin Molloy; Luciano Corda; Daniela Medicina; David R Curran; Noel G McElvaney; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123
  9 in total
  3 in total

1.  A Highly Phenotyped Open Access Repository of Alpha-1 Antitrypsin Deficiency Pluripotent Stem Cells.

Authors:  Joseph E Kaserman; Killian Hurley; Mark Dodge; Carlos Villacorta-Martin; Marall Vedaie; Jyh-Chang Jean; Derek C Liberti; Marianne F James; Michelle I Higgins; Nora J Lee; George R Washko; Raul San Jose Estepar; Jeffrey Teckman; Darrell N Kotton; Andrew A Wilson
Journal:  Stem Cell Reports       Date:  2020-07-02       Impact factor: 7.765

Review 2.  A Review of Alpha-1 Antitrypsin Binding Partners for Immune Regulation and Potential Therapeutic Application.

Authors:  Michael E O'Brien; Grace Murray; Debananda Gogoi; Azeez Yusuf; Cormac McCarthy; Mark R Wormald; Michelle Casey; Claudie Gabillard-Lefort; Noel G McElvaney; Emer P Reeves
Journal:  Int J Mol Sci       Date:  2022-02-23       Impact factor: 5.923

3.  In vitro metabolism, reaction phenotyping, enzyme kinetics, CYP inhibition and induction potential of ataluren.

Authors:  Ronald Kong; Jiyuan Ma; Seongwoo Hwang; Young-Choon Moon; Ellen M Welch; Marla Weetall; Joseph M Colacino; Neil Almstead; John Babiak; Elizabeth Goodwin
Journal:  Pharmacol Res Perspect       Date:  2020-04
  3 in total

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