Disease model: LAMP-2 enlightens Danon disease.

  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},
  volume={7 1},
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


Publications citing this paper.
Showing 1-10 of 34 extracted citations

Similar Papers

Loading similar papers…