doi: 10.1016/0005-2744(75)90162-x.
Hexosaminidase C in Tay-Sachs and Sandhoff disease
- PMID: 237554
- DOI: 10.1016/0005-2744(75)90162-x
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Hexosaminidase C in Tay-Sachs and Sandhoff disease
Biochim Biophys Acta.
.
Abstract
1. Hexosaminidase C has been purified from human placenta. Complete separation from hexosaminidases A and B was achieved. 2. The following properties of hexosaminidase C differ from those of the A and B isozymes. Presence in the supernatant rather than the lysosomes, neutral pH optimum, higher molecular weight, lack of activity on beta-N-acetylgalactosamine derivatives, and lack of immunological relationship. 3. Hexosaminidase C is active in patients deficient in hexosaminidases A and B and can be recognized by its characteristic electrophoretic mobility. It is concluded that the genetic origin of hexosaminidase C is probably different from that of hexosaminidases A and B.
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