Cystathionine Synthase in Tissue Culture Derived from Human Skin: Enzyme Defect in Homocystinuria
- 31 May 1968
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 160 (3831) , 1007-1009
- https://doi.org/10.1126/science.160.3831.1007
Abstract
Fibroblasts derived from normal human skin and from cells in amniotic fluid and grown in tissue culture have cystathionine synthase activity. Skin from homocystinuric patients gives rise to fibroblast lines with normal activities of methionine-activating enzyme, but with very low or undetectable cystathionine synthase activity. Thus, the enzyme lesion in homocystinuria is demonstrable in readily available human cells. Neither cystathionine synthase nor methionine-activating enzyme could be detected in intact normal skin.This publication has 15 references indexed in Scilit:
- Genetics of mammalian cell culturesHuman Genetics, 1966
- Fluorometric Ultramicroanalysis of Deoxyribonucleic Acid in Human Skin*Journal of Investigative Dermatology, 1965
- Threonine dehydratase activity in humans lacking cystathionine synthaseBiochemical and Biophysical Research Communications, 1965
- Homocystinuria due to Cystathionine Synthetase Deficiency: The Mode of InheritanceScience, 1964
- Homocystinuria: An Enzymatic DefectScience, 1964
- Differentiation in Monolayer Tissue Culture CellsPublished by Elsevier ,1964
- The FibroblastPublished by Elsevier ,1963
- The identification of homocystine in the urineBiochemical and Biophysical Research Communications, 1962
- Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern IrelandArchives of Disease in Childhood, 1962
- Mechanical Separation of the Epidermis from the Corium1Journal of Investigative Dermatology, 1952