@article{ed06dabf7edd4c9ebf2bff2a1f4cbd8d,
title = "Enzyme defect in skin fibroblasts in intermittent branched-chain detonuria and in maple syrup urine disease",
abstract = "The enzyme defect in maple syrup urine disease and in its varient form, intermittent branched-chain ketonuria, is demonstrable in skin fibroblast cultures derived from patients with this disease. In both instances there is considerable reduction in the ability to decarboxylate all three branched-chain keto acids. In view of the recent evidence that there are two or three branched-chain decarboxylases, each with a specific substrate, it is suggested that one gene controls the synthesis of a polypeptide that is common to the involved enzymes or to some structural or regulatory part of the enzyme complex.",
author = "Joseph Dancis and Joel Hutzler and Cox, {Rody P.}",
note = "Funding Information: 1 This research was aided by grants from the U. S. Public Health Service (GMl,S!jOtJ) and the Health Research Council of the City of New York. *Dr. Dancis is Career Investigator, The National Institute of Child Health and Human Development. * Dr. Cox is Career Scientist, Health Research Council of the City of New York. 407 containing 10% calf serum and antibiotics (penicillin 50 units/ml, streptomycin 50 pg/ml and kanamycin 30 pg/ml). Subcultures of the explant were permitted to grow to confluence in 4-02 glass bottles. The cells from 3 or 4 bottles were harvested with a rubber policeman, and collected by centrifuging at 12OOg for 15 minutes. Skin fibroblasts from the MSUD patient ( WaBi) (7, 12) were derived from cells stored frozen in liquid nitrogen since 1963. Originally the cells were slowly frozen (~1{\textquoteright} per minute) in Waymouth{\textquoteright}s complete medium with 30% calf serum and 10% glycerol. The ampule was thawed quickly in water at 37”, the cell suspension was harvested by centrifuging at 800 rpm for 5 minutes, and resuspended in Waymouth{\textquoteright}s medium containing 10% calf serum, and cultured as described above. Copyright: Copyright 2017 Elsevier B.V., All rights reserved.",
year = "1969",
month = apr,
doi = "10.1016/0006-2944(69)90043-X",
language = "English (US)",
volume = "2",
pages = "407--411",
journal = "Biochemical medicine",
issn = "0006-2944",
publisher = "Academic Press Inc.",
number = "5",
}