NDLI: Purification, Biochemical and Immunological Characterisation of Hexosaminidase A from Variant AB of Infantile GM2 Gangliosidosis

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Purification, Biochemical and Immunological Characterisation of Hexosaminidase A from Variant AB of Infantile GM2 Gangliosidosis

Content Provider	Scilit
Author	Conzelmann, Ernst Sandhoff, Konrad Nehrkorn, Heidi Geiger, Benjamin Arnon, Ruth
Copyright Year	1978
Description	Journal: Journal of Biological Inorganic Chemistry Variant AB of infantile $G_{M2}$ gangliosidosis is a fatal disease leading invariably to death within the first few years of life, due to the excessive storage of the glycolipids $G_{M2}$ and $G_{A2}$ which occurs in the nervous tissue of the patient. Unlike other variants of this hereditary disease, where a deficiency of hexosaminidase A, the $ganglioside‐G_{M2}$‐degrading enzyme, could be demonstrated, the variant AB is characterized by a normal or even elevated level of this enzyme. To examine the possibility of a mutant hexosaminidase A, well capable of hydrolyzing the fluorogenic synthetic substrates but unable to attack the ganglioside, the enzyme was isolated from a patient's tissue and characterized biochemically and immunologically in comparison with an enzyme preparation from normal control tissue. No differences between hexosaminidase A from normal and variant AB tissue could be detected indicating that the defect involved in this disease is not at the genetic level of production of either α or β chains of hexosaminidase A.
Related Links	https://febs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1432-1033.1978.tb12137.x
Ending Page	33
Page Count	7
Starting Page	27
ISSN	09498257
e-ISSN	14321327
DOI	10.1111/j.1432-1033.1978.tb12137.x
Journal	Journal of Biological Inorganic Chemistry
Issue Number	1
Volume Number	84
Language	English
Publisher	Wiley-Blackwell
Publisher Date	1978-03-01
Access Restriction	Open
Subject Keyword	Journal: Journal of Biological Inorganic Chemistry Cell Tissue Engineering Biochemical and Immunological
Content Type	Text
Resource Type	Article
Subject	Biochemistry Inorganic Chemistry

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