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RESEARCH PRODUCT
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.
J. GehlerMichael CantzJürgen W. Sprangersubject
BiophysicsNeuraminidaseBiochemistryLesionchemistry.chemical_compoundMucolipidosesMucolipidosis IHydrolasemedicineHumansSialidosisMolecular BiologyCells CulturedSkinbiologyMucolipidosesSubstrate (chemistry)Cell BiologyFibroblastsmedicine.diseaseSialic acidBiochemistrychemistrybiology.proteinSialic Acidsmedicine.symptomNeuraminidasedescription
Abstract Extracts of fibroblasts derived from a patient with mucolipidosis I exhibited a fivefold increase in sialic acid content as compared to those of normal cells. About 80% of this sialic acid was linked to other molecules. Using neuraminlactose as a substrate, mucolipidosis I fibroblasts were found to be severely deficient in an “acid” α-N-acetylneuraminidase. Since other lysosomal hydrolase activities were normal, we hypothesize that the basic metabolic lesion in mucolipidosis I lies in a defective degradation of sialic acid-containing compounds due to the genetic deficiency of a neuraminidase.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1977-01-24 | Biochemical and biophysical research communications |