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

Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.

American journal of human genetics - 1 Sept 1991

Grace M E, Berg A, He G S, Goldberg L, Horowitz M, Grabowski G A

Abstract excerpt

To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of the mutant DNA encoding a proline-for-leucine substitution at amino acid 444 (L444P) resulted in...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Arginine
Share to Cell Line

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cells, Cultured

Share to Gene Expression

Share to Immunoblotting

Share to Mutagenesis, Site-Directed

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 1909090
PMCID: PMC1683149

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.PMID 1909090Read ↗

Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.Semantic proximity Read ↗

A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.Semantic proximity Read ↗

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.Semantic proximity Read ↗

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.Semantic proximity Read ↗

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.Semantic proximity Read ↗

Characterization of neuronopathic Gaucher disease among ethnic Poles.Semantic proximity Read ↗

Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.Semantic proximity Read ↗

Expression of mutated glucocerebrosidase alleles in human cells.Semantic proximity Read ↗

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.Semantic proximity Read ↗

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.Semantic proximity Read ↗

A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.Semantic proximity Read ↗

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.Semantic proximity Read ↗

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