Article
Biochemical, biomarker, and behavioral characterization of the <i> Grn <sup>R493X</sup> </i> mouse model of frontotemporal dementia
2023-05-29
Abstract excerpt
<h4>ABSTRACT</h4> Heterozygous loss-of-function mutations in the progranulin gene ( GRN ) are a major cause of frontotemporal dementia due to progranulin haploinsufficiency; complete deficiency of progranulin causes neuronal ceroid lipofuscinosis. Several progranulin-deficient mouse models have been generated, including both knockout mice and knockin mice harboring a common patient mutation (R493X). However, the...
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Identifiers and source
- Literature Corpus work
- d20998c4-ec5e-5577-8af4-6c591b0eaf16
- DOI
- 10.1101/2023.05.27.542495
