Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Electron spin resonance, scanning electron microscopic, and SDS-polyacrylamide gel electrophoretic studies of erythrocytes in Friedreich's ataxia have been performed. No alteration in the physical state of membrane lipids, in morphology, or in the staining profile of erythrocytes in Friedreich's ataxia could be demonstrated. An altered conformation and/or organization of proteins in erythrocyte membranes in this disorder was suggested by spin labeling studies (P less than 0.025), favoring the possibility of a generalized membrane abnormality in Friedreich's ataxia. These findings are discussed in relation to other inherited neurological diseases where similar studies have been performed.
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PMID:Evidence for an altered physical state of membrane proteins in erythrocytes in Friedreich's ataxia. 22 60

Proteins of human erythrocyte membranes of Friedrich's ataxia patients and controls were examined by SDS-polyacrylamide gel electrophoresis before and after reduction with beta-mercaptoethanol. No difference could be detected in the composition of their state of aggregation. The protein kinase activity of human erythrocyte membranes of eleven Friedreich's ataxia patients and six controls was determined. No difference in their protein kinase activity could be detected. These results are discussed with respect to an involvement of a generalized membrane defect in Friedreich's ataxia.
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PMID:Protein kinase activity of human erythrocyte membranes in Friedreich's ataxia. 721 58