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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2001-6-28
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pubmed:abstractText |
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 and leucocyte vacuolation. LAMP-2 deficient mice represent a valuable animal model of Danon disease. They will further be used to study the exact role of LAMP-2 in autophagy and to analyse the consequences of an impaired autophagic pathway in various tissues.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1471-4914
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
37-9
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:11427988-Animals,
pubmed-meshheading:11427988-Antigens, CD,
pubmed-meshheading:11427988-Cardiomyopathies,
pubmed-meshheading:11427988-DNA Mutational Analysis,
pubmed-meshheading:11427988-Disease Models, Animal,
pubmed-meshheading:11427988-Female,
pubmed-meshheading:11427988-Glycogen Storage Disease,
pubmed-meshheading:11427988-Humans,
pubmed-meshheading:11427988-Intellectual Disability,
pubmed-meshheading:11427988-Intracellular Membranes,
pubmed-meshheading:11427988-Lysosomal Storage Diseases,
pubmed-meshheading:11427988-Lysosomal-Associated Membrane Protein 2,
pubmed-meshheading:11427988-Lysosome-Associated Membrane Glycoproteins,
pubmed-meshheading:11427988-Male,
pubmed-meshheading:11427988-Membrane Glycoproteins,
pubmed-meshheading:11427988-Mice,
pubmed-meshheading:11427988-Mice, Knockout,
pubmed-meshheading:11427988-Muscle, Skeletal,
pubmed-meshheading:11427988-Muscular Diseases,
pubmed-meshheading:11427988-Myocardium,
pubmed-meshheading:11427988-Pancreas,
pubmed-meshheading:11427988-Phagocytosis,
pubmed-meshheading:11427988-Species Specificity,
pubmed-meshheading:11427988-X Chromosome
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pubmed:year |
2001
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pubmed:articleTitle |
Disease model: LAMP-2 enlightens Danon disease.
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pubmed:affiliation |
Zentrum Biochemie und Molekulare Zellbiologie, Abt. Biochemie II, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. psaftig@gwdg.de
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pubmed:publicationType |
Journal Article,
Comparative Study,
Review
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