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

Article

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

The Journal of biological chemistry - 2 Apr 2004

Tropak Michael B, Reid Stephen P, Guiral Marianne, Withers Stephen G, Mahuran Don

Abstract excerpt

Tay-Sachs and Sandhoff diseases are lysosomal storage disorders that result from an inherited deficiency of beta-hexosaminidase A (alphabeta). Whereas the acute forms are associated with a total absence of hexosaminidase A and early death, the chronic adult forms exist with activity and protein l...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to beta-N-Acetylhexosaminidases
Share to Hexosaminidase A
Share to Hot Temperature

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Vitro Techniques

Share to Lysosomes

Share to Molecular Chaperones

Share to Sandhoff Disease

Share to Tay-Sachs Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 14724290
DOI: 10.1074/jbc.M308523200
PMCID: PMC2904802

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14724290-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.PMID 14724290Read ↗

New Approaches to Tay-Sachs Disease TherapySemantic proximity Read ↗

Human Recombinant Lysosomal β-Hexosaminidase A produced in P.pastoris efficiently reduced GM2 ganglioside accumulation in Tay- Sachs DiseaseSemantic proximity Read ↗

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.Semantic proximity Read ↗

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

Studies in Tay-Sachs and Sandhoff's diseases. Immunologic and structural properties of hexosaminidase A and hexosaminidase B.Semantic proximity Read ↗

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients.Semantic proximity Read ↗

The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.Semantic proximity Read ↗

[Sandhoff disease (beta-hexosaminidase alpha-chain deficiency)].Semantic proximity Read ↗

Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.Semantic proximity Read ↗

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

Spontaneous appearance of Tay-Sachs disease in an animal model.Semantic proximity Read ↗

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