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Article

The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.

American journal of human genetics - 1 Mar 1995

Boles D J, Proia R L

Abstract excerpt

Tay-Sachs disease (TSD) is a catastrophic neurodegenerative disorder caused by mutations in the HEXA gene. The most common TSD allele worldwide contains a 4-bp insertion in exon 11 that produces a downstream premature termination codon. Despite normal transcription of this allele, HEXA mRNA is severely reduced, indicating that the HEXA transcript must be unstable. Minigenes of HEXA were constructed and expressed...

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Identifiers

PMID: 7887427
PMCID: PMC1801160

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.PMID 7887427Read ↗

Nonsense-mediated decay of human HEXA mRNA.Semantic proximity Read ↗

Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.Semantic proximity Read ↗

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.Semantic proximity Read ↗

Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.Semantic proximity Read ↗

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.Semantic proximity Read ↗

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.Semantic proximity Read ↗

An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.Semantic proximity Read ↗

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Semantic proximity Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.Semantic proximity Read ↗

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

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.Semantic proximity Read ↗

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