Glycosphingolipid degradation and animal models of GM2-gangliosidoses

Author:

Kolter T.1,Sandhoff K.1

Affiliation:

1. Keluké-Institut für Organische Chemie und Biochemie der Universität; Gerhard-Domagk-str. 1 Bonn D-53121 Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference57 articles.

1. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease;Bradova;Hum Genet,1993

2. Accumulation of sphingolipids in SAP precursor (prosaposin) deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor;Burkhardt;Eur J Biochem,1997

3. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro-absence of one of them in a human Gaucher disease variant;Christomanou;Biol Chem Hoppe-Seyler,1986

4. Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease;Cohen-Tannoudji;Mammalian Genome,1995

5. Partial enzyme deficiencies: residual activities and the development of neurological disorders;Conzelmann;Dev Neurosci,1983

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