Literature DB >> 31004034

Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.

Zhigang Liu1, Yuan Zhang1, Min Zhu2,3, Bin Zhang4.   

Abstract

Entities:  

Year:  2019        PMID： 31004034      PMCID： PMC6959177          DOI： 10.3324/haematol.2018.205104

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


× No keyword cloud information.
  15 in total

1.  A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin.

Authors:  Chunmei Yang; Jinong Feng; Wenjia Song; Jicheng Wang; Becky Tsai; Yunwu Zhang; William A Scaringe; Kathleen A Hill; Paris Margaritis; Katherine A High; Steve S Sommer
Journal:  Proc Natl Acad Sci U S A       Date:  2007-09-19       Impact factor: 11.205

2.  Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.

Authors:  Bijoyita Roy; Westley J Friesen; Yuki Tomizawa; John D Leszyk; Jin Zhuo; Briana Johnson; Jumana Dakka; Christopher R Trotta; Xiaojiao Xue; Venkateshwar Mutyam; Kim M Keeling; James A Mobley; Steven M Rowe; David M Bedwell; Ellen M Welch; Allan Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  2016-10-04       Impact factor: 11.205

3.  Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.

Authors:  Mariya Moosajee; Dhani Tracey-White; Matthew Smart; Marla Weetall; Simona Torriano; Vasiliki Kalatzis; Lyndon da Cruz; Peter Coffey; Andrew R Webster; Ellen Welch
Journal:  Hum Mol Genet       Date:  2016-06-21       Impact factor: 6.150

4.  Aminoglycoside suppression of nonsense mutations in severe hemophilia.

Authors:  Paula D James; Sanj Raut; Georges E Rivard; Man-Chiu Poon; Margaret Warner; Susan McKenna; Jayne Leggo; David Lillicrap
Journal:  Blood       Date:  2005-07-28       Impact factor: 22.113

5.  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

6.  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

Review 7.  Therapeutics based on stop codon readthrough.

Authors:  Kim M Keeling; Xiaojiao Xue; Gwen Gunn; David M Bedwell
Journal:  Annu Rev Genomics Hum Genet       Date:  2014-04-18       Impact factor: 8.929

8.  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

9.  Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

Authors:  Mattia Ferrarese; Maria Francesca Testa; Dario Balestra; Francesco Bernardi; Mirko Pinotti; Alessio Branchini
Journal:  Hum Mutat       Date:  2018-02-17       Impact factor: 4.878

10.  Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Authors:  Katharine Bushby; Richard Finkel; Brenda Wong; Richard Barohn; Craig Campbell; Giacomo P Comi; Anne M Connolly; John W Day; Kevin M Flanigan; Nathalie Goemans; Kristi J Jones; Eugenio Mercuri; Ros Quinlivan; James B Renfroe; Barry Russman; Monique M Ryan; Mar Tulinius; Thomas Voit; Steven A Moore; H Lee Sweeney; Richard T Abresch; Kim L Coleman; Michelle Eagle; Julaine Florence; Eduard Gappmaier; Allan M Glanzman; Erik Henricson; Jay Barth; Gary L Elfring; Allen Reha; Robert J Spiegel; Michael W O'donnell; Stuart W Peltz; Craig M Mcdonald
Journal:  Muscle Nerve       Date:  2014-10       Impact factor: 3.217
View more
  1 in total

Review 1.  Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

Authors:  Silvia Lombardi; Maria Francesca Testa; Mirko Pinotti; Alessio Branchini
Journal:  Int J Mol Sci       Date:  2020-12-11       Impact factor: 5.923
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.