{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE328nnn/GSE328109/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Transcriptomics"],"species":["Mus musculus"],"gds_type":["Expression profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE328109"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Humanized mice carrying a pathogenic GRN deletion as a pre-clinical platform for targeted gene therapies in frontotemporal dementia","description":"Haploinsufficiency of the gene progranulin (GRN) is a major cause of frontotemporal dementia (FTD), for which there are no effective therapies. We developed a novel strain of mice expressing a human GRN transgene bearing a four base pair deletion in exon 5 (GRNc.388_391delCAGT) that causes FTD. Characterization of mice expressing the mutant transgene (GRNmEx5) indicates that GRNmEx5 is expressed at low levels and retains partial function. The GRNmEx5 protein partially rescues progranulin nullizygous-associated neuropathology and transcriptomic dysfunction. The Grn-/-; GRNmEx5 model provides insight into progranulin biology, increases our understanding of a pathogenic variant that causes FTD, and facilitates the development of GRN gene therapies.","dates":{"publication":"2026/05/31"},"accession":"GSE328109","cross_references":{"GSM":["GSM9672537","GSM9672538","GSM9672539","GSM9672540","GSM9672541","GSM9672542","GSM9672543","GSM9672532","GSM9672533","GSM9672534","GSM9672535","GSM9672536"],"GPL":["19057"],"GSE":["328109"],"taxon":["Mus musculus"]}}