Discover Community Create You

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

A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse.

Human molecular genetics - 1 Feb 1998

Rottier R J, Bonten E, d'Azzo A

Abstract excerpt

Lysosomal neuraminidase (sialidase) occurs in a high molecular weight complex with the glycosidase beta-galactosidase and the serine carboxypeptidase protective protein/cathepsin A (PPCA). Association of the enzyme with PPCA is crucial for its correct targeting and lysosomal activation. In man two genetically distinct storage disorders are associated with either a primary or a secondary deficiency of lysosomal...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to DNA, Complementary
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Genotype

Share to Mice, Inbred BALB C

Source

Identifiers

PMID: 9425240
DOI: 10.1093/hmg/7.2.313

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse.PMID 9425240Read ↗

Cloning and characterization of a sialidase from the murine histocompatibility-2 complex: low levels of mRNA and a single amino acid mutation are responsible for reduced sialidase activity in mice carrying the Neu1a allele.Semantic proximity Read ↗

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in miceSemantic proximity Read ↗

Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells.Semantic proximity Read ↗

Molecular pathology of NEU1 gene in sialidosis.Semantic proximity Read ↗

Sialoadhesin deficiency ameliorates myelin degeneration and axonopathic changes in the CNS of PLP overexpressing mice.Semantic proximity Read ↗

The Lysosomal Sialic Acid Transporter Sialin Is Required for Normal CNS MyelinationSemantic proximity Read ↗

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.Semantic proximity Read ↗

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteinsSemantic proximity Read ↗

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.Semantic proximity Read ↗

B cell antigen receptor signal strength and peripheral B cell development are regulated by a 9-O-acetyl sialic acid esterase.Semantic proximity Read ↗

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.Semantic proximity Read ↗

AAV-mediated gene therapy for SialidosisSemantic proximity Read ↗

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