Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

doi:10.1016/s0006-291x(05)81388-9

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Article

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

Biochemical and biophysical research communications - 27 Nov 1991

Banerjee P, Siciliano L, Oliveri D, McCabe N R, Boyers M J, Horwitz A L, Li S C, Dawson G

Abstract excerpt

A patient (KL) with progressive motor neuron disease associated with partial Hex A (alpha beta) and no Hex B (beta beta) activity, synthesized beta-chains which only associated with alpha-chains. To identify the molecular basis of this inability of beta-chains to self associate, RNA from cultured fibroblasts was reverse transcribed, the cDNA encoding the beta-chain amplified by polymerase chain reaction,...

Topics

Adult
Amino Acid Sequence
Base Sequence
Cells, Cultured
DNA
Female
Fibroblasts
Hexosaminidase A
Hexosaminidase B
Humans
Isoenzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Motor Neurons

Mutation

Neuromuscular Diseases

Oligodeoxyribonucleotides

RNA

Source

Open in PubMed

Identifiers

PMID: 1720305
DOI: 10.1016/s0006-291x(05)81388-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1720305-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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