Juvenile Sandhoff disease : some properties of the residual hexosaminidase in cultured fibroblasts
The residual hexosaminidase isoenzymes in juvenile Sandhoff and infantile Sandhoff disease fibroblasts, have been determined by starch gel electrophoresis and column isoelectric focusing. Hex A and hex S are the major residual isozymes in fibroblasts from the juvenile patient, while hex B is barely detectable. Only hex S could be detected in fibroblasts from infantile Sandhoff patients. These results suggest that the defects in juvenile and infantile Sandhoff disease may be different allelic modifications of the beta subunit common to hex A and hex B.
Medienart: |
Artikel |
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Erscheinungsjahr: |
1976 |
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Erschienen: |
1976 |
Enthalten in: |
Zur Gesamtaufnahme - volume:28 |
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Enthalten in: |
American journal of human genetics - 28(1976), 5 vom: 15. Sept., Seite 489-95 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Wood, S [VerfasserIn] |
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Themen: |
Comparative Study |
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Anmerkungen: |
Date Completed 03.01.1977 Date Revised 24.08.2020 published: Print Citation Status MEDLINE |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM000114464 |
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245 | 1 | 0 | |a Juvenile Sandhoff disease |b some properties of the residual hexosaminidase in cultured fibroblasts |
264 | 1 | |c 1976 | |
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500 | |a Date Completed 03.01.1977 | ||
500 | |a Date Revised 24.08.2020 | ||
500 | |a published: Print | ||
500 | |a Citation Status MEDLINE | ||
520 | |a The residual hexosaminidase isoenzymes in juvenile Sandhoff and infantile Sandhoff disease fibroblasts, have been determined by starch gel electrophoresis and column isoelectric focusing. Hex A and hex S are the major residual isozymes in fibroblasts from the juvenile patient, while hex B is barely detectable. Only hex S could be detected in fibroblasts from infantile Sandhoff patients. These results suggest that the defects in juvenile and infantile Sandhoff disease may be different allelic modifications of the beta subunit common to hex A and hex B | ||
650 | 4 | |a Comparative Study | |
650 | 4 | |a Journal Article | |
650 | 7 | |a Isoenzymes |2 NLM | |
650 | 7 | |a Hexosaminidases |2 NLM | |
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700 | 1 | |a MacDougall, B G |e verfasserin |4 aut | |
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