Glycosphingolipidoses: beyond the enzymatic defect
The glycosphingolipid lysosomal storage diseases are a group of monogenic human disorders caused by the impaired catalytic activity of enzymes responsible for glycosphingolipid catabolism. Clinical presentation of the diseases is heterogeneous, with little obvious correlation between the kind of acc...
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| Veröffentlicht in: | Glycoconjugate journal 2004-01, Vol.21 (6), p.295-304 |
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| container_title | Glycoconjugate journal |
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| creator | Raas-Rothschild, Annick Pankova-Kholmyansky, Irene Kacher, Yaacov Futerman, Anthony H |
| description | The glycosphingolipid lysosomal storage diseases are a group of monogenic human disorders caused by the impaired catalytic activity of enzymes responsible for glycosphingolipid catabolism. Clinical presentation of the diseases is heterogeneous, with little obvious correlation between the kind of accumulating glycosphingolipid and disease progression or pathogenesis. In this review, we discuss clinical symptoms of this group of diseases, and attempt to link disease progression and pathology with the biochemical and cellular pathways that may be potentially altered in the diseases. |
| doi_str_mv | 10.1023/B:GLYC.0000046272.38480.ef |
| format | Article |
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| identifier | ISSN: 0282-0080 |
| ispartof | Glycoconjugate journal, 2004-01, Vol.21 (6), p.295-304 |
| issn | 0282-0080 1573-4986 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Apoptosis Catalysis Glycosphingolipids - metabolism Humans Inflammation - physiopathology Proteins Sphingolipidoses - classification Sphingolipidoses - enzymology Sphingolipidoses - physiopathology |
| title | Glycosphingolipidoses: beyond the enzymatic defect |
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