Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes

Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes

Danon disease is a severe X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Clinical manifestations are phenotypically diverse and consist of hypertrophic and dilated cardiomyopathies, skeletal myopathy, retinopathy, and intellectual dysfunction. Here, we...

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Bibliographic Details
Main Authors: Giorgia Del Favero, Alois Bonifacio, Teisha J. Rowland, Shanshan Gao, Kunhua Song, Valter Sergo, Eric D. Adler, Luisa Mestroni, Orfeo Sbaizero, Matthew R. G. Taylor
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Journal of Clinical Medicine
Subjects:
Danon disease
LAMP-2 deficiency
cardiac fibrosis
multi-omics profiling
mitochondrial aging phenotype
cell biomechanics
Online Access:https://www.mdpi.com/2077-0383/9/8/2457

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https://www.mdpi.com/2077-0383/9/8/2457

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