Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences-Reference-Cited by-同舟云学术

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Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences

Published:2017-05-31 Issue:16 Volume:26 Page:3116-3129
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Xue Xiaojiao¹²,Mutyam Venkateshwar²³,Thakerar Amita⁴,Mobley James⁵,Bridges Robert J.⁴,Rowe Steven M.²³,Keeling Kim M.¹²,Bedwell David M.¹²

Affiliation:

1. Department of Biochemistry and Molecular Genetics

2. Gregory Fleming James Cystic Fibrosis Research Center

3. Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA

4. Department of Physiology and Biophysics, Chicago Medical School, North Chicago, IL 60064, USA

5. Department of Surgery, University of Alabama at Birmingham, Birmingham, AL 35294, USA

Funder

National Institutes of Health

Cystic Fibrosis Foundation

National Cancer Institute

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/16/3116/24339921/ddx196.pdf

Reference47 articles.

1. A meta-analysis of nonsense mutations causing human genetic disease;Mort;Hum. Mutat,2008

2. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations;Howard;Nat. Med,1996

3. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line;Bedwell;Nat. Med,1997

4. Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene;Du;J. Mol. Med,2002

5. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model;Du;Proc. Natl. Acad. Sci. U.S.A,2008

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3. Anticodon Engineered Transfer RNAs (ACE-tRNAs) are a Platform Technology for Suppressing Nonsense Mutations;2024-06-06

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