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Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression.
TLDR
It is concluded that TS mRNA with a three-repeat sequence has greater translation efficiency than that with the two- Repeat sequence, which provides the rationale for comprehensive usage of TS genotyping with quantitation of TS mRNA or TS protein to predict the patient's response to 5-fluorouracil-based chemotherapy.
Expression and role of mannose receptor/terminal high-mannose type oligosaccharide on osteoclast precursors during osteoclast formation.
TLDR
The results indicate that the binding of terminal high-mannose and mannose receptor is important for the process of cellular fusion in osteoclast formation.
The nutrient formula containing eicosapentaenoic acid and docosahexaenoic acid benefits the fatty acid status of patients receiving long-term enteral nutrition.
TLDR
The fatty acid composition of the EN formulas affected the fatty acid status of patients receiving long-term EN, and formulas containing preformed EPA and DHA with suitable amounts of essential fatty acids may benefit these patients.
Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts.
TLDR
It was concluded that this protein has a function to restore their activities in fibroblasts from galactosialidosis patients after being endocytosed from the culture medium.
Intracellular transport of acid alpha-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system.
TLDR
It was concluded that the membrane-bound precursor of acid alpha-glucosidase is transported to lysosomes by a phosphomannosyl receptor-independent system although the enzyme lacks the recognition marker for the phosphomansyl receptor and processing of an intermediate form to mature forms does not occur in this disease.
GMl-gangliosidosis: Abnormalities in biosynthesis and early processing of β-galactosidase in fibroblasts
TLDR
It was concluded that the enzyme deficiency was caused by heterogeneous molecular mutations of β-galactosidase with a defect in early processing in this disease.
I-cell disease: evidence for a mannose 6-phosphate independent pathway for translocation of lysosomal enzymes in lymphoblastoid cells.
TLDR
The possible mannose 6-phosphate system is evaluated and it is found that the activities of lysosomal enzymes in various tissues are generally normal, except for P-galactosidase.
Km mutant of acid α‐glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement
TLDR
A male patient is reported with a mutation of acid α‐glucosidase causing an altered Km toward natural substrates, and a possible role of this mutant enzyme in the pathogenesis of this disease and the relationship to glycogenosis II are discussed.
A simple differential immunoprecipitation assay of urinary acid and neutral alpha-glucosidases for glycogenosis II.
TLDR
Results indicate that assays of urinary acid alpha-glucosidase by this immunological method are useful for detection of the various types of glycogenosis II.
Lysine malabsorption syndrome: a new type of transport defect.
TLDR
Oral loading test of amino acids revealed an imparied absorption of lysine and normal absorption of arginine, ornithine, and cystine in the intestine, which indicates a specific defect in transport ofLysine inThe intestine as well as in the renal tubule.
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