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

Erscheinungsjahr:

1976

Erschienen:

1976

Enthalten in:

Zur Gesamtaufnahme - volume:28

Enthalten in:

American journal of human genetics - 28(1976), 5 vom: 15. Sept., Seite 489-95

Sprache:

Englisch

Beteiligte Personen:

Wood, S [VerfasserIn]
MacDougall, B G [VerfasserIn]

Themen:

Comparative Study
EC 3.2.1.-
Hexosaminidases
Isoenzymes
Journal Article

Anmerkungen:

Date Completed 03.01.1977

Date Revised 24.08.2020

published: Print

Citation Status MEDLINE

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM000114464