http://www.nature.com/cdd/journal/v14/n5/full/4402120a.html
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In addition, as observed in Danon disease, which is caused by mutation of the lysosome-associated membrane protein-2 (LAMP-2), and LAMP-2-deficient mice, impairment of autophagosome-lysosome fusion also leads to unequivocal increment of autophagosomes in cardiac muscles and hepatocytes.29, 30
29. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406: 906–910. | Article | PubMed | ISI | ChemPort |
30. Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lullmann-Rauch R et al. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 2000; 406: 902–906. | Article | PubMed | ISI | ChemPort |