Fucosidosis: four new mutations and a new polymorphism (1993)
Seo, Hee-Chan, Willems, Patrick J., Kretz, Keith A., Martin, Brian M., O'Brien, John S.
Fucosidosis is a rare lysosomal storage disease due to a nearly complete deficiency of α-L-fucosidase (EC 3.2.1.51). In this study, all 8 exons of the α-L-fucosidase structural gene (FUCA-1) were...
Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of a-L-fucosldase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by...
A bioautographic technique for assay of folic and folinic acids /--by John S. O'Brien. (1958)
O'Brien, John S., Terry, D. W.
D. W. Terry, major advisor
Gaucher's Disease: Deficiency of “cid”β-Glucosidase and Reconstitution of Enzyme Activity In Vitro
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a β-glucosidase (EC 3.2.1.21) isoenzyme that has optimal activity at pH 4.0-4.3, and is stimulated by 0.02% Triton...
Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in α-acetylglucosaminidase activity (α-2-acetamido-2-deoxy-D-glucoside...
Glucocerebrosidase: reconstitution of activity from macromolecular components. (Short Communication)
Ho, Mae Wan, O'Brien, John S., Radin, Norman S., Erickson, John S.
Glucocerebrosidase activity was reconstituted in vitro from a soluble glycoprotein factor (P) and a particle-bound factor (C). The physiological significance of the system is discussed.
Gaucher's Disease: Deficiency of “cid”β-Glucosidase and Reconstitution of Enzyme Activity In Vitro
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a β-glucosidase (EC 3.2.1.21) isoenzyme that has optimal activity at pH 4.0-4.3, and is stimulated by 0.02% Triton...
Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in α-acetylglucosaminidase activity (α-2-acetamido-2-deoxy-D-glucoside...
Glucocerebrosidase: reconstitution of activity from macromolecular components. (Short Communication)
Ho, Mae Wan, O'Brien, John S., Radin, Norman S., Erickson, John S.
Glucocerebrosidase activity was reconstituted in vitro from a soluble glycoprotein factor (P) and a particle-bound factor (C). The physiological significance of the system is discussed.
Restriction analysis of the structural α-L-fucosidase gene and its linkage to fucosidosis
Darby, John K., Willems, Patrick J., Nakashima, Phil, Johnsen, Jeff, Ferrell, Robert E., Wijsman, Ellen M., ...
Human α-L-fucosidase is a lysosomal enzyme responsible for hydrolysis of α-L-fucoside linkages in fucoglycoconjugates. A single gene, FUCA 1, located on chromosome 1p34.1–1p36.1 encodes for...