Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease. Manso AM, Hashem SI, Gault E, Soto-Hermida A, Villarruel E, Brambatti M, Bogomolovas J, Bushway PJ, Chen C, Battiprolu P, Keravala A, Schwartz JD, Shah G, Gu Y, Dalton ND, Hammond K, Peterson K, Saftig P, Adler ED. Science Translational Medicine, (2020).
In this study, we evaluated the efficacy of recombinant AAV9-mediated gene transfer of human LAMP2B in Lamp2 KO male mice. The Danon disease model mice showed improved metabolic and physiologic function.
Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure. Hashem SI, Perry CN, Bauer M, Han S, Clegg SD, Ouyang K, Deacon DC, Spinharney M, Panopoulos AD, Izpisua Belmonte JC, Frazer KA, Chen J, Gong Q, Zhou Z, Chi NC, Adler ED. Stem Cells, (2015).
In this study we describe a novel, pluripotent stem cell model of Danon disease and use this model to demonstrate how the absence of LAMP-2 leads to increased oxidative stress.
Impaired mitophagy facilitates mitochondrial damage in Danon disease. Hashem SI, Perry CN, Bauer M, Han S, Clegg SD, Ouyang K, Deacon DC, Spinharney M, Panopoulos AD, Izpisua Belmonte JC, Frazer KA, Chen J, Gong Q, Zhou Z, Chi NC, Adler ED. Journal of Molecular and Cellular Cardiology, (2017).
In this study we demonstrated how LAMP-2 deficiency leads to impaired mitochondrial funciton, using a novel mouse model of Danon disease.
Danon disease: clinical features, evaluation, and management. D'souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, Mestroni L, Taylor MR. Circulation: Heart Failure, (2014).
This paper reviews the salient clinical features of Danon disease.
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DANON DISEASE GRANTS
PI: Eric Adler