gangliosidoses gm2/arginine

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Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

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Juvenile GM2 gangliosidosis is a rare neurodegenerative disorder closely related to Tay-Sachs disease but of later onset and more protracted course. The biochemical defect lies in the alpha-subunit of the lysosomal enzyme beta-hexosaminidase. Cultured fibroblasts derived from patient A synthesized

Mutation in GM2-gangliosidosis B1 variant.

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Fibroblasts from a patient with GM2-gangliosidosis B1 variant contained mRNA of normal size but in reduced quantity for the beta-hexosaminidase alpha subunit. The nucleotide sequence of a cDNA clone that included the entire protein coding sequence was completely normal except for a single base

A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.

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Two CpG mutations at codon 504 of the gene encoding the alpha-subunit of beta-hexosaminidase (the HEX A gene) have been identified previously: (1) a C deletion resulting in premature termination of the alpha-subunit and (2) a G----A transition resulting in 504Arg----His substitution, in patients

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