Disease model: LAMP-2 enlightens Danon disease.

@article{Saftig2001DiseaseML,
  title={Disease model: LAMP-2 enlightens Danon disease.},
  author={Paul Saftig and Yukie Tanaka and Renate L{\"u}llmann-Rauch and Kurt von Figura},
  journal={Trends in molecular medicine},
  year={2001},
  volume={7 1},
  pages={37-9}
}
Danon disease ('lysosomal glycogen storage disease with normal acid maltase') is characterized by a cardiomyopathy, myopathy and variable mental retardation. Mutations in the coding sequence of the lysosomal-associated membrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease. LAMP-2 deficient mice manifest a similar vacuolar cardioskeletal myopathy. In addition to the patient reports LAMP-2 deficiency in mice causes pancreatic, hepatocytic, endothelial… CONTINUE READING

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