Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations-Reference-Cited by-同舟云学术

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Published:2017-04-20 Issue:16 Volume:129 Page:2303-2307
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Branchini Alessio¹^ORCID,Ferrarese Mattia¹,Campioni Matteo¹,Castaman Giancarlo²,Mari Rosella³,Bernardi Francesco¹,Pinotti Mirko¹

Affiliation:

1. Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy;

2. Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy; and

3. Centre for Haemostasis and Thrombosis, Haematology Section, Department of Medical Sciences, University of Ferrara, Ferrara, Italy

Abstract

Key Points Only a few F9 nonsense mutations are responsive to drug-induced readthrough due to specific translation and protein structural constraints. Reinsertion of the WT residue and gain-of-function effects account for functionally relevant readthrough.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/129/16/2303/1399954/blood738641.pdf

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