Hairs from patients with maple syrup urine disease show a structural defect in the fiber cuticle

Journal of Investigative Dermatology

Volumn 106, Issue 3, 1996, Pages 461-464

  Jones, L N ^a   Peet, D J ^a,c   Danks, D M ^b   Negri, A P ^a,d   Rivett, D E ^a  

^a CSIRO   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d AUSTRALIAN INSTITUTE OF MARINE SCIENCE   (Australia)

Author keywords

Fatty acid; Isoleucine; Membrane

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE);

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; HAIR DISEASE; HUMAN; HUMAN TISSUE; LIPID METABOLISM; MAPLE SYRUP URINE DISEASE; PRIORITY JOURNAL;

EID: 0029871653     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12343618     Document Type: Article

References (21)

1. Köpke V, Nilssen B: Wool surface properties and their influence on dye uptake - a microscopical study. J Text Inst 51:T1398-T1413, 1960
2. Evans DJ, Leeder JD, Rippon JA, Rivett DE: Separation and analysis of the surface lipids of the wool fibre. Proc 7th Int Wool Text Res Conf Tokyo 1:135-142, 1985
3. Wertz PW, Downing DT: Integral lipids of human hair. Lipids 23:878-881, 1988
4. Kalkbrenner U, Körner A, Höcker H, Rivett DE: Studies on the composition of the wool cuticle. Proc 8th Int Wool Text Res Conf Christchurch 1:398-407, 1990
5. Negri AP, Cornell HJ, Rivett DE: The nature of covalently bound fatty acids in wool fibres. Aust J Agric Res 42:1285-1292, 1991
6. Wertz PW, Downing DT: Integral lipids of mammalian hair. Comp Biochem Physiol 92B:759-761, 1989
7. Peet DJ, Wettenhall REH, Rivett DE: A comparative study of covalently-bound fatty acids in keratinized tissues. Comp Biochem Physiol 102B:363-366, 1992
8. Ward RH, Willis HA, George GA, Guise GB, Denning RJ, Evans DJ, Short RD: Surface analysis of wool by X-ray photoelectron spectroscopy and static secondary ion mass spectrometry. Text Res J 63:362-368, 1993
9. Peet DJ, Wettenhall REH, Rivett DE: The chemistry of the cuticle surface of keratin fibers. Text Res J 64:58-59, 1995
10. Zhang B, Healy PJ, Zhao Y, Crabb DW, Harris RA: Premature translation termination of the pre-E1α subunit of the branched chain α-ketoacid dehydrogenase as a cause of maple syrup urine disease in polled hereford calves. J Biol Chem 265:2425-2427, 1990
11. Garton GA: Aspects of the chemistry and biochemistry of branched-chain fatty acids. Chem Ind (Lond) 295-300, 1985
12. Morrison WR, Smith LM: Preparation of fatty acid methyl esters and dimethyl acetate from lipids with boron trifluoride-methanol. J Lipid Res 5:600-608, 1964
13. Spurr AR: A low-viscosity epoxy resin embedding medium for electron microscopy. J Ultrastruct Res 26:31-43, 1969
14. Reynolds ES: The use of lead citrate at high pH as an electron-opaque stain in electron microscopy. J Cell Biol 17:208-212, 1963
15. Buchanan JH, Otterburn MS: Some structural comparisons between cystine-deficient and normal hair keratin. IRGS Med Sci 12:691-692, 1984
16. King NLR, Bradbury JH: The chemical composition of wool. V. The epicuticle. Aust J Biol Sci 21:375-384, 1968
17. Negri AP, Cornell HJ, Rivett DE: A model for the surface of keratin fibres. Text Res J 63:109-115, 1993
18. Jones LN: Surface membranes in developing mammalian hair fibers. J Invest Dermatol 102:559, 1994
19. Jones LN, Horr T, Kaplin IJ: Formation of surface membranes in developing mammalian hair fibres. Micron 25:589-595, 1994
20. Wheatley VR, Lipkin G, Woo TH: Lipogenesis from amino acids in perfused isolated dog skin. J Lipid Res 8:84-89, 1967
21. Downing DT: Mammalian waxes. In: Kolattukudy PE (ed.). Chemistry and Biochemistry of Natural Waxes. Elsevier, Amsterdam, 1976, pp 17-48