Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference22 articles.
1. Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase
2. Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.
3. Mapping of the gene coding for the human GM2activator protein to chromosome 5
4. Assignment of the human gene for hexosaminidase B to chromosome 5
5. Molecular basis of an adult form of β-hexosaminidase B deficiency with motor neuron disease
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1. Inefficiency in GM2 Ganglioside Elimination by Human Lysosomal .BETA.-Hexosaminidase .BETA.-Subunit Gene Transfer to Fibroblastic Cell Line Derived from Sandhoff Disease Model Mice;Biological and Pharmaceutical Bulletin;2006
2. Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease;Journal of Molecular Biology;2003-04
3. Absence of Metabolic Cross-correction in Tay-Sachs Cells;Journal of Biological Chemistry;2002-06
4. Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis;Acta Neurologica Scandinavica;2002-05-20
5. 17. Naturally occurring mutations in GM2 gangliosidosis: A compendium;Tay-Sachs Disease;2001
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