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Logo of jcinvestThe Journal of Clinical InvestigationCurrent IssueArchiveSubscriptionAbout the Journal
J Clin Invest. 1968 August; 47(8): 1858–1864.
PMCID: PMC297346

Studies of red cell stromal proteins in Tay-Sachs disease


Hemoglobin-free red blood cell ghosts of nine patients with Tay-Sachs disease and 14 normal control subjects have been analyzed for content of total protein, hexosamines, individual amino acids, and sialic acid. Red cell ghosts from Tay-Sachs' children have been shown to contain significantly increased amounts of protein, hexosamine, threonine, and serine, and probably sialic acid, each of which was increased by approximately 25% over control values. These observations suggest that the red cell membrane in patients with Tay-Sachs disease contains a significant excess of a glycoprotein or proteins, as compared with normal, and that the metabolic defect in this disease, therefore, affects glycoproteins as well as complex lipids.

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