Transcription Factor EB Activation Rescues Advanced αB‐Crystallin Mutation‐Induced Cardiomyopathy by Normalizing Desmin Localization-Reference-Cited by-同舟云学术

Transcription Factor EB Activation Rescues Advanced αB‐Crystallin Mutation‐Induced Cardiomyopathy by Normalizing Desmin Localization

Published:2019-02-19 Issue:4 Volume:8 Page:
ISSN:2047-9980
Container-title:Journal of the American Heart Association
language:en
Short-container-title:JAHA

Author:

Ma Xiucui¹²,Mani Kartik¹²,Liu Haiyan¹²,Kovacs Attila¹,Murphy John T.¹²,Foroughi Layla¹²,French Brent A.³,Weinheimer Carla J.¹,Kraja Aldi¹,Benjamin Ivor J.⁴,Hill Joseph A.⁵,Javaheri Ali¹,Diwan Abhinav¹²

Affiliation:

1. Center for Cardiovascular Research and Division of Cardiology Department of Internal Medicine Washington University School of Medicine St Louis MO

2. Medical Service John Cochran Veterans Affairs Medical Center St Louis MO

3. Department of Biomedical Engineering University of Virginia Charlottesville VA

4. Department of Internal Medicine Medical College of Wisconsin Milwaukee WI

5. Department of Internal Medicine University of Texas Southwestern Medical Center Dallas TX

Abstract

See Editorial by Mukai et al

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine

Reference53 articles.

1. Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

2. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

3. Mutation R120G in B-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function

4. A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

5. Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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