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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Article

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

The Journal of biological chemistry - 5 Jun 1990

Paw B H, Moskowitz S M, Uhrhammer N, Wright N, Kaback M M, Neufeld E F

Abstract excerpt

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 an alpha-subunit which could acquire mannose 6-phosphate and be secreted, but which failed to associate with the...

Topics

Arginine
Base Sequence
Cells, Cultured
Child
Child, Preschool
DNA
Female
Fibroblasts
G(M2) Ganglioside
Gangliosidoses
Histidine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homozygote

Humans

Lysosomes

Macromolecular Substances

Male

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 2140574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2140574-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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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.PMID 2140574Read ↗

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