A subtle disease and a dilemma: can cells secrete collagen that does not contain a sugar-tag? Academic Article

abstract

• HYDROXYLYSINE-deficient collagen disease, described elsewhere in this issue by Pinnell et al., is obviously a rare disorder and it probably accounts for only a fraction of the patients previously classified as having the EhlersDanlos syndrome. The disease, however, may well be an experiment of nature that makes it necessary for us to revise our basic concepts regarding how cells synthesize and secrete the proteins found in the extracellular spaces of the body. Since the collagen in the skin of the two sisters with the disease was found to contain less hydroxylysine than normal collagen, one might at first assume that. 1972, Massachusetts Medical Society. All rights reserved.

authors

• Prockop, Darwin

published proceedings

• N Engl J Med

author list (cited authors)

• Prockop, D. J.

citation count

• 2

complete list of authors

• Prockop, DJ

publication date

• May 1972

publisher

• Massachusetts Medical Society  Publisher

keywords

• Amino Acid Metabolism, Inborn Errors
• Collagen
• Collagen Diseases
• Disaccharides
• Galactose
• Glucose
• Humans
• Hydroxylation
• Hydroxylysine
• Hydroxyproline
• Lysine
• Skin
• Skin Diseases

Digital Object Identifier (DOI)

• 10.1056/NEJM197205112861910

start page

• 1055

end page

• 1056

volume

• 286

issue

• 19

URL

• http://dx.doi.org/10.1056/nejm197205112861910