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Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. |
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| Authors: | G Bach M M Cohen G Kohn |
| Institution: | Department of Human Genetics Hadassah-Hebrew University Medical Center P.O.B. 499, Jerusalem, Israel |
| Abstract: | Extracts of cultured skin fibroblasts derived from patients with mucolipidosis IV showed a marked increase and altered distribution of GM3 and GD3 gangliosides. GD3 is elevated 1.5–2 times that of normal whereas GM3 is elevated to a lesser extent. No abnormalities were found in the neutral glycolipids. These two gangliosides apparently comprise most of the accumulated lipid-like material observed on ultrastructural analysis in this disease. |
| Keywords: | NANA-α(2→8)-NANA-α(2→3)-gal-β(1→4)-Glc-Ceramide NANA-α(2→3)-gal-β-(1→4)-Glc-Ceramide NANA — N-acetyl Neuraminic Acid gal — Galactose glc-Glucose |
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