Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation-Reference-Cited by-同舟云学术

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation

Published:2013-11-28 Issue:23 Volume:122 Page:3825-3831
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Nuzzo Francesca¹,Radu Claudia²,Baralle Marco³,Spiezia Luca²,Hackeng Tilman M.¹,Simioni Paolo²,Castoldi Elisabetta¹

Affiliation:

1. Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands;

2. Department of Cardiologic, Thoracic and Vascular Sciences, 2nd Chair of Internal Medicine, University of Padua Medical School, Padua, Italy; and

3. International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

Abstract

Key Points Homozygosity for the F5 c.1296+268A>G splicing mutation causes life-threatening factor V deficiency. Mutation-specific antisense molecules can correct this splicing defect and restore factor V synthesis in the patient’s megakaryocytes.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/23/3825/1464801/3825.pdf

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