A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay-Reference-Cited by-同舟云学术

A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay

Published:2019-02-05 Issue:6 Volume:139 Page:799-811
ISSN:0009-7322
Container-title:Circulation
language:en
Short-container-title:Circulation

Author:

Seeger Timon¹²,Shrestha Rajani¹²,Lam Chi Keung¹²,Chen Caressa¹²,McKeithan Wesley L.¹²,Lau Edward¹²,Wnorowski Alexa¹³,McMullen George⁴,Greenhaw Matthew¹⁴,Lee Jaecheol¹²,Oikonomopoulos Angelos¹²,Lee Soah¹²³⁵,Yang Huaxiao¹²,Mercola Mark¹²,Wheeler Matthew¹²,Ashley Euan A.¹²,Yang Fan³,Karakikes Ioannis¹,Wu Joseph C.¹²⁶

Affiliation:

1. Stanford Cardiovascular Institute (T.S., R.S., C.K.L., C.C., W.L.M., E.L., A.W., M.G, J.L., A.O., S.L., H.Y., M.M., M.W., E.A.A., I.K., J.C.W.), Stanford University School of Medicine, CA.

2. Department of Medicine, Division of Cardiology (T.S., R.S., C.K.L., C.C., W.L.M., E.L., J.L., A.O., S.L., H.Y., M.M., M.W., E.A.A., J.C.W.), Stanford University School of Medicine, CA.

3. Department of Bioengineering (A.W., S.L., F.Y.), Stanford University School of Medicine, CA.

4. Department of Cardiothoracic Surgery (G.M., M.G., I.K.), Stanford University School of Medicine, CA.

5. Department of Orthopedic Surgery (S.L.), Stanford University School of Medicine, CA.

6. Institute for Stem Cell Biology and Regenerative Medicine (J.C.W.) Stanford University School of Medicine, CA.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Reference34 articles.

1. Hypertrophic Cardiomyopathy

2. Genetics of Hypertrophic Cardiomyopathy After 20 Years

3. Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

4. Nonsense-Mediated mRNA Decay and Ubiquitin–Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice

5. Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes

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