Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Research Project (R01)
Project #
5R01DK045992-04
Application #
2145218
Study Section
Medical Biochemistry Study Section (MEDB)
Project Start
1993-03-01
Project End
1997-02-28
Budget Start
1996-03-15
Budget End
1997-02-28
Support Year
4
Fiscal Year
1996
Total Cost
Indirect Cost
Name
University of Medicine & Dentistry of NJ
Department
Miscellaneous
Type
Schools of Medicine
DUNS #
622146454
City
Piscataway
State
NJ
Country
United States
Zip Code
08854
Tyynela, J; Sohar, I; Sleat, D E et al. (2001) Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme. Eur J Paediatr Neurol 5 Suppl A:43-5
Lin, L; Sohar, I; Lackland, H et al. (2001) The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. J Biol Chem 276:2249-55
Sohar, I; Lin, L; Lobel, P (2000) Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays. Clin Chem 46:1005-8
Tyynela, J; Sohar, I; Sleat, D E et al. (2000) A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. EMBO J 19:2786-92
Naureckiene, S; Sleat, D E; Lackland, H et al. (2000) Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290:2298-301
Sohar, I; Sleat, D E; Jadot, M et al. (1999) Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem 73:700-11
Sleat, D E; Gin, R M; Sohar, I et al. (1999) Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 64:1511-23
Jadot, M; Lin, L; Sleat, D E et al. (1999) Subcellular localization of mannose 6-phosphate glycoproteins in rat brain. J Biol Chem 274:21104-13
Liu, C G; Sleat, D E; Donnelly, R J et al. (1998) Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. Genomics 50:206-12
Sleat, D E; Sohar, I; Pullarkat, P S et al. (1998) Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses. Biochem J 334 ( Pt 3):547-51

Showing the most recent 10 out of 19 publications