Article
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.
Proceedings of the National Academy of Sciences of the United States of America - 10 Dec 1996
Hess B, Saftig P, Hartmann D, Coenen R, Lüllmann-Rauch R, Goebel H H, Evers M, von Figura K, D'Hooge R, Nagels G, De Deyn P, Peters C, Gieselmann V
Abstract excerpt
Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, causing various neurologic symptoms. Since no naturally occurring animal model of the disease is available, we have generated arylsulfatase A-deficient mice. Deficient animals store the sphingolipid cerebroside-3-sulfate in various...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.