Article
Autophagy guided interventions to modify the cardiac phenotype of Danon disease.
Biochemical pharmacology - 1 Oct 2022
Yadin Dor, Petrover Zachary, Shainberg Asher, Alcalai Ronny, Waldman Maayan, Seidman Jon, Seidman Christine E, Abraham Nader G, Hochhauser Edith, Arad Michael
Abstract excerpt
Danon disease is a lethal X-linked genetic syndrome resulting from radical mutations in the LAMP2 gene. LAMP2 protein deficiency results in defective lysosomal function, autophagy arrest and a multisystem disorder primarily involving the heart, skeletal muscle and the central nervous system. Cardiomyopathy is the main cause of morbidity and mortality. To investigate the mechanisms of and develop therapies for...
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