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- W3046457836 abstract "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 investigated the metabolic landscape of Danon disease by applying a multi-omics approach and combined structural and functional readouts provided by Raman and atomic force microscopy. Using these tools, Danon patient-derived cardiac tissue, primary fibroblasts, and human induced pluripotent stem cells differentiated into cardiomyocytes (hiPSC-CMs) were analyzed. Metabolic profiling indicated LAMP-2 deficiency promoted a switch toward glycolysis accompanied by rerouting of tryptophan metabolism. Cardiomyocytes’ energetic balance and NAD+/NADH ratio appeared to be maintained despite mitochondrial aging. In turn, metabolic adaption was accompanied by a senescence-associated signature. Similarly, Danon fibroblasts appeared more stress prone and less biomechanically compliant. Overall, shaping of both morphology and metabolism contributed to the loss of cardiac biomechanical competence that characterizes the clinical progression of Danon disease." @default.
- W3046457836 created "2020-08-07" @default.
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- W3046457836 date "2020-07-31" @default.
- W3046457836 modified "2023-10-14" @default.
- W3046457836 title "Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes" @default.
- W3046457836 cites W1266734045 @default.
- W3046457836 cites W1581201881 @default.
- W3046457836 cites W1584301804 @default.
- W3046457836 cites W1598595867 @default.
- W3046457836 cites W1841635074 @default.
- W3046457836 cites W1959721425 @default.
- W3046457836 cites W1968550558 @default.
- W3046457836 cites W1973108468 @default.
- W3046457836 cites W1977603207 @default.
- W3046457836 cites W1977892743 @default.
- W3046457836 cites W1979147539 @default.
- W3046457836 cites W2008505480 @default.
- W3046457836 cites W2013182077 @default.
- W3046457836 cites W2021242983 @default.
- W3046457836 cites W2038049117 @default.
- W3046457836 cites W2063409327 @default.
- W3046457836 cites W2083599207 @default.
- W3046457836 cites W2095282336 @default.
- W3046457836 cites W2099169137 @default.
- W3046457836 cites W2108047733 @default.
- W3046457836 cites W2109716633 @default.
- W3046457836 cites W2113833510 @default.
- W3046457836 cites W2131848047 @default.
- W3046457836 cites W2133465414 @default.
- W3046457836 cites W2139672746 @default.
- W3046457836 cites W2146368849 @default.
- W3046457836 cites W2158217645 @default.
- W3046457836 cites W2158485480 @default.
- W3046457836 cites W2165989194 @default.
- W3046457836 cites W2168072233 @default.
- W3046457836 cites W2224415831 @default.
- W3046457836 cites W2259018153 @default.
- W3046457836 cites W2260283274 @default.
- W3046457836 cites W2267737556 @default.
- W3046457836 cites W2290337523 @default.
- W3046457836 cites W2313646508 @default.
- W3046457836 cites W2382399754 @default.
- W3046457836 cites W2401815452 @default.
- W3046457836 cites W2467526126 @default.
- W3046457836 cites W2472423187 @default.
- W3046457836 cites W2512777378 @default.
- W3046457836 cites W2517880185 @default.
- W3046457836 cites W2548475758 @default.
- W3046457836 cites W2559832518 @default.
- W3046457836 cites W2579286947 @default.
- W3046457836 cites W2595472709 @default.
- W3046457836 cites W2607645184 @default.
- W3046457836 cites W2612248505 @default.
- W3046457836 cites W2614974118 @default.
- W3046457836 cites W2752455162 @default.
- W3046457836 cites W2767683865 @default.
- W3046457836 cites W2773025283 @default.
- W3046457836 cites W2775095764 @default.
- W3046457836 cites W2789810162 @default.
- W3046457836 cites W2791656744 @default.
- W3046457836 cites W2795028290 @default.
- W3046457836 cites W2802997025 @default.
- W3046457836 cites W2805905907 @default.
- W3046457836 cites W2806421341 @default.
- W3046457836 cites W2807005539 @default.
- W3046457836 cites W2807066155 @default.
- W3046457836 cites W2887776762 @default.
- W3046457836 cites W2888389816 @default.
- W3046457836 cites W2896376692 @default.
- W3046457836 cites W2902949106 @default.
- W3046457836 cites W2905996686 @default.
- W3046457836 cites W2914981882 @default.
- W3046457836 cites W2916497674 @default.
- W3046457836 cites W2917952293 @default.
- W3046457836 cites W2923114894 @default.
- W3046457836 cites W2940070563 @default.
- W3046457836 cites W2946173685 @default.
- W3046457836 cites W2959600764 @default.
- W3046457836 cites W2964324305 @default.
- W3046457836 cites W2970640770 @default.
- W3046457836 cites W2988705775 @default.
- W3046457836 cites W2990281329 @default.
- W3046457836 cites W2993986224 @default.
- W3046457836 cites W2995236678 @default.
- W3046457836 cites W3025615890 @default.
- W3046457836 doi "https://doi.org/10.3390/jcm9082457" @default.
- W3046457836 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7465084" @default.
- W3046457836 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32751926" @default.