A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

doi:10.1002/humu.1380010106

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

Human mutation - 1 Jan 1992

Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P

Abstract excerpt

The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described. An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexosaminidase A (Hex A) alpha-subunit. Sequencing of amplified cDNA fragments revealed a single alteration, guanine to adenine at nt 749 creating a G250D...

Topics

Amino Acid Sequence
Animals
Aspartic Acid
Base Sequence
Canada
Cell Line
Chlorocebus aethiops
Consanguinity
Female
Glycine
Hexosaminidase A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Kidney

Lebanon

Macromolecular Substances

Male

Molecular Sequence Data

Mutagenesis, Site-Directed

Source

Open in PubMed

Identifiers

PMID: 1301189
DOI: 10.1002/humu.1380010106

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301189-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.PMID 1301189Read ↗

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.Semantic proximity Read ↗

beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.Semantic proximity Read ↗

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.Semantic proximity Read ↗

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

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.Semantic proximity Read ↗

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.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 ↗

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

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.Semantic proximity Read ↗

A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.Semantic proximity Read ↗

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.Semantic proximity Read ↗

Molecular epidemiology of Tay-Sachs disease in Europe.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.