Biochemical Characterization of the Cys138Arg Substitution Associated with the AB Variant Form of GM2 Gangliosidosis: Evidence That Cys138 Is Required for the Recognition of the GM2 Activator/GM2 Ganglioside Complex by β-Hexosaminidase A
Author:
Affiliation:
1. Research Institute, Hospital for Sick Children, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
Publisher
American Chemical Society (ACS)
Subject
Biochemistry
Link
https://pubs.acs.org/doi/pdf/10.1021/bi971211s
Reference38 articles.
Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Atypical juvenile presentation of G M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene;Molecular Genetics and Metabolism Reports;2017-06
2. GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review;BMC Pediatrics;2016-07-11
3. Ligand Extraction Properties of the GM2 Activator Protein and Its Interactions with Lipid Vesicles;Biophysical Journal;2009-07
4. Hexosaminidase assays;Glycoconjugate Journal;2008-05-13
5. The enzyme-binding region of human GM2-activator protein;FEBS Journal;2006-03
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