PMID: 1448Feb 1, 1976

Defects in the biochemistry of collagen in diseases of connective tissue

The Journal of Investigative Dermatology
J Uitto, J R Lichtenstein

Abstract

The collagens are the major structural glycoproteins of connective tissues. A unique primary structure and a multiplicity of post-translational modification reactions are required for normal fibrillogenesis. The post-translational modifications include hydroxylation of prolyl and lysyl residues, glycosylation, folding of the molecule into triple-helical conformation, proteolytic conversion of precursor procollagen to collagen, and oxidative deamination of certain lysyl and hydroxylysyl residues. Any defect in the normal mechanisms responsible for the synthesis and secretion of collagen molecules or the deposition of these molecules into extracellular fibers could result in abnormal fibrillogenesis; such defects could result in a connective tissue disease. Recently, defects in the regulation of the types of collagen synthesized and in the enzymes involved in the post-translational modifications have been found in heritable diseases of connective tissue. Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome ty...Continue Reading

Citations

Jul 5, 1979·The New England Journal of Medicine·D J ProckopN A Guzman
Apr 1, 1979·Equine Veterinary Journal·D E Gunson
May 1, 1979·International Journal of Dermatology·E A Bauer, J Uitto
Aug 1, 1979·The British Journal of Dermatology·J UittoA Z Eisen
Jun 28, 1977·Calcified Tissue Research·P ChristnerC C Clark
Nov 1, 1989·International Journal of Dermatology·Z Blumenfeld, A Gilhar
Jul 1, 1980·International Journal of Dermatology·C S Stevens, R L DeVillez
Jan 1, 1984·Connective Tissue Research·R C ShoreB K Berkovitz
Jan 1, 1982·Cancer Metastasis Reviews·P A Jones, Y A De Clerck
Jan 1, 1982·Archives of Dermatological Research·H LarjavaV K Hopsu-Havu
Jul 7, 2007·International Journal of Dermatology·Darius R Mehregan, Victoria N Dooley
Aug 1, 1979·International Journal of Cosmetic Science·A Meybeck
Feb 13, 1986·The New England Journal of Medicine·V M MonnierR R Kohn
Jul 1, 1978·The British Journal of Surgery·D W Short
Jul 1, 1980·Veterinary Pathology·S W BartholdA Schwartz
Jan 5, 2006·EMBO Reports·Edurne BerraJacques Pouysségur
Jul 22, 2008·Journal of Cell Communication and Signaling·Douglas W Hamilton
Jan 1, 1982·The Physician and Sportsmedicine·Angela D Smith, Lyle J Micheli
Jun 4, 2019·Chembiochem : a European Journal of Chemical Biology·Mathieu LalandeJean-Christophe Poully
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Aug 1, 1982·The Journal of Dermatology·M IgarashiN Watanabe
Aug 1, 1982·Acta Orthopaedica Scandinavica·A EkelandN Langeland
Dec 1, 1977·Hospital Practice·D J Prockop, N A Guzman
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Feb 1, 1980·Acta Orthopaedica Scandinavica·L B EngesaeterR Løvstad
Aug 1, 1986·Acta Orthopaedica Scandinavica·B A JensenN Fredensborg

Related Concepts

Aortic Diseases
Skeletal Bone
Brain Pathology
Collagenase-Like Peptidase
Zyderm
Connective Tissue
Cutis Laxa
Ehlers-Danlos Syndrome, Type IV
Fascia
Cystathionine beta-Synthase Deficiency Disease

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