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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
1986-5-30
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pubmed:abstractText |
Cultured fibroblasts from different variants of GM1-gangliosidosis synthesize normal amounts of 88-kDa beta-galactosidase precursor. Yet the amount of the mature 64-kDa form is reduced to 5-15% of normal values. In this communication it is shown that the mutation in the infantile and adult form of GM1-gangliosidosis interferes with the phosphorylation of precursor beta-galactosidase. As a result the precursor is secreted instead of being compartmentalized into the lysosomes and further processed. The impaired phosphorylation might be due to conformational changes of the precursor molecule.
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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 |
May
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pubmed:issn |
0021-9258
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:day |
5
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pubmed:volume |
261
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
5702-4
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:3084469-Cells, Cultured,
pubmed-meshheading:3084469-Enzyme Precursors,
pubmed-meshheading:3084469-Fibroblasts,
pubmed-meshheading:3084469-G(M1) Ganglioside,
pubmed-meshheading:3084469-Galactosidases,
pubmed-meshheading:3084469-Gangliosidoses,
pubmed-meshheading:3084469-Humans,
pubmed-meshheading:3084469-Molecular Weight,
pubmed-meshheading:3084469-Phosphates,
pubmed-meshheading:3084469-Phosphorus Radioisotopes,
pubmed-meshheading:3084469-Phosphorylation,
pubmed-meshheading:3084469-Protein Processing, Post-Translational,
pubmed-meshheading:3084469-Skin,
pubmed-meshheading:3084469-beta-Galactosidase
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pubmed:year |
1986
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pubmed:articleTitle |
GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.
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pubmed:publicationType |
Journal Article
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