Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

doi:10.1016/j.bcmd.2013.03.006

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

Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

Blood cells, molecules & diseases - 1 Aug 2013

Sanders Angela, Hemmelgarn Harmony, Melrose Heather L, Hein Leanne, Fuller Maria, Clarke Lorne A

Abstract excerpt

Gaucher disease is an autosomal recessively inherited storage disorder caused by deficiency of the lysosomal hydrolase, acid β-glucosidase. The disease manifestations seen in Gaucher patients are highly heterogeneous as is the responsiveness to therapy. The elucidation of the precise factors responsible for this heterogeneity has been challenging as the development of clinically relevant animal models of Gaucher...

Topics

Ambroxol
Animals
Cerebellum
Cerebral Cortex
Disease Models, Animal
Enzyme Activation
Female
Gaucher Disease
Gene Expression
Genetic Variation
Genotype
Glucosylceramidase
Humans
Imino Pyranoses
Liver
Male
Mice
Mice, Transgenic

Source

Open in PubMed

Identifiers

PMID: 23642305
DOI: 10.1016/j.bcmd.2013.03.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 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.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics