Article
Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor.
Circulation - 1 Nov 2016
Ng Kwong-Man, Mok Pamela Y, Butler Amy W, Ho Jenny C Y, Choi Shing-Wan, Lee Yee-Ki, Lai Wing-Hon, Au Ka-Wing, Lau Yee-Man, Wong Lai-Yung, Esteban Miguel A, Siu Chung-Wah, Sham Pak C, Colman Alan, Tse Hung-Fat
Abstract excerpt
BACKGROUND: Danon disease is an X-linked disorder that leads to fatal cardiomyopathy caused by a deficiency in lysosome-associated membrane protein-2 (LAMP2). In female patients, a later onset and less severe clinical phenotype have been attributed to the random inactivation of the X chromosome carrying the mutant diseased allele. We generated a patient-specific induced pluripotent stem cell (iPSCs)-based model...
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