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

Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.

Blood cells, molecules & diseases - 1 Jan 2000

Wafaei Julie R, Choy Francis Y M

Abstract excerpt

Glucocerebrosidase is a lysosomal enzyme that hydrolyses the beta-glycosidic linkage of glucocerebroside, a ubiquitous sphingolipid present in the plasma membrane of mammalian cells. Deleterious mutations in the glucocerebrosidase gene result in Gaucher disease, the most prevalent lysosomal storage disease. Humans have one glucocerebrosidase functional gene and pseudogene that were located 16 kb apart on...

Read the complete abstract on PubMed

Topics

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

Share to Gene Conversion
Share to Gene Duplication
Share to Glucosylceramidase

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

Share to Primates

Share to Pseudogenes

Share to Recombination, Genetic

Share to Sequence Alignment

Share to Sequence Deletion

Source

Identifiers

PMID: 16102985
DOI: 10.1016/j.bcmd.2005.07.004

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

Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.PMID 16102985Read ↗

Sequence variability of a human pseudogene.Semantic proximity Read ↗

GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolutionSemantic proximity Read ↗

A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.Semantic proximity Read ↗

Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene.Semantic proximity Read ↗

Evolution of the phosphoglycerate mutase processed gene in human and chimpanzee revealing the origin of a new primate gene.Semantic proximity Read ↗

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

Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.Semantic proximity Read ↗

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

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.Semantic proximity Read ↗

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.Semantic proximity Read ↗

Formation of human long intergenic non-coding RNA genes and pseudogenes: ancestral sequences are key playersSemantic proximity Read ↗

Mutation pattern variation among regions of the primate genome.Semantic proximity Read ↗

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