Article
Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.
Science translational medicine - 18 Mar 2020
Manso Ana Maria, Hashem Sherin I, Nelson Bradley C, Gault Emily, Soto-Hermida Angel, Villarruel Elizza, Brambatti Michela, Bogomolovas Julius, Bushway Paul J, Chen Chao, Battiprolu Pavan, Keravala Annahita, Schwartz Jonathan D, Shah Gaurav, Gu Yusu, Dalton Nancy D, Hammond Kirk, Peterson Kirk, Saftig Paul, Adler Eric D
Abstract excerpt
Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy associated with multiorgan dysfunction, including the heart, skeletal muscle, and liver. There are no specific treatments, and most male patients die from advanced heart failure during the second or third decade of life. DD is caused by mutations in the lysosomal-associated membrane protein 2 (LAMP2) gene, a key mediator of autophagy. LAMP2 has...
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