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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,...

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

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Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.PMID 1720305Read ↗

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Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.Semantic proximity Read ↗

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Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.Semantic proximity Read ↗

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