We plan to define the mutations in human GM1 gangliosidosis, especially patients with the adult form and Morquio Type B. We will pinpoint the mutation in canine GM1 gangliosidosis (Portuguese water dogs) after completing the characterization of the normal canine acid beta-galacto- sidase cDNA. We will express canine and human acid beta-galactosidase cDNA's in several vector systems as a prelude to gene therapy. We plan to assess whether vector-transgene deliver to mutant cells can express sufficient enzyme to achieve metabolic correction and to quantify the amount of enzyme per unit time necessary to achieve this result.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
2R01NS008682-23A2
Application #
3393794
Study Section
Medical Biochemistry Study Section (MEDB)
Project Start
1981-09-01
Project End
1995-06-30
Budget Start
1992-07-01
Budget End
1993-06-30
Support Year
23
Fiscal Year
1992
Total Cost
Indirect Cost
Name
University of California San Diego
Department
Type
Schools of Medicine
DUNS #
077758407
City
La Jolla
State
CA
Country
United States
Zip Code
92093
Dewji, N; Wenger, D; Fujibayashi, S et al. (1986) Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator. Biochem Biophys Res Commun 134:989-94