Article

A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-in Murine Models of Gaucher Disease

2024-01-08

Abstract excerpt

Gaucher disease (GD) is a lysosomal storage disorder stemming from biallelic mutations in GBA1, characterized by glucocerebrosidase dysfunction and glucocerebroside and glucosylsphingosine accumulation. Since phenotypes of murine models of GD often differ from those in patients, careful characterization of Gba1 mutant mice is necessary to establish their ability to model GD. We performed side-by-side comparative b...

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Literature Corpus work: 9215e842-97a6-5717-a4c9-8db774d30744
DOI: 10.20944/preprints202401.0626.v1

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