title: Glycosphingolipidoses: beyond the enzymatic defect.
abstract: 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.
authors.affiliation: Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel.
authors.forename: Annick
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: Irene
authors.initials: I
authors.lastname: Pankova-Kholmyansky
authors.forename: Yaacov
authors.initials: Y
authors.lastname: Kacher
authors.forename: Anthony H
authors.initials: AH
authors.lastname: Futerman
mesh_terms: D017209:Apoptosis; D002384:Catalysis; D006028:Glycosphingolipids / Q000378:metabolism*; D006801:Humans; D007249:Inflammation / Q000503:physiopathology; D013106:Sphingolipidoses / Q000145:classification / Q000201:enzymology / Q000503:physiopathology*
chemical_list: D006028:Glycosphingolipids