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Article

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

Biochimica et biophysica acta - 22 Feb 1991

Mahuran D J

Abstract excerpt

No abstract is available from the source.

Topics

Biological Transport
G(M2) Ganglioside
Genes
Hexosaminidase A
Hexosaminidase B
Humans
Isoenzymes
Macromolecular Substances
Mutation
RNA Processing, Post-Transcriptional
Sandhoff Disease
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1825792
DOI: 10.1016/0925-4439(91)90044-a

Genes

HEXA
HEXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.PMID 1825792Read ↗

Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.Semantic proximity Read ↗

Biochemical consequences of mutations causing the GM2 gangliosidoses.Semantic proximity Read ↗

Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.Semantic proximity Read ↗

P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.Semantic proximity Read ↗

The GM2-gangliosidoses and the elucidation of the beta-hexosaminidase system.Semantic proximity Read ↗

Structural basis of the GM2 gangliosidosis B variant.Semantic proximity Read ↗

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.Semantic proximity Read ↗

The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.Semantic proximity Read ↗

Novel homozygous HEXB mutation identified in a consanguineous Iranian pedigree with Sandhoff diseaseSemantic proximity Read ↗

Thirty two novel nsSNPs May effect on <i>HEXA</i> protein Leading to Tay-Sachs disease (TSD) Using a Computational ApproachSemantic proximity Read ↗

Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.Semantic proximity Read ↗

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.Semantic proximity Read ↗

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