Article
Human TDP-43 expression worsens FTD-related phenotypes in progranulin-insufficient mice.
Neurobiology of disease - 1 Sept 2026
Cook Anna K, Lin Benjamin, Song Yumo, Greathouse Kelsey M, Kaplelach Azariah K, Love Mackenzie L, Davis Skylar E, Stoll Anna C, Hall Justin A, Hakim Ahmad R, Hel Jakub F, Vollmer Giacynta A, Howard Alexandria C, Cooper Noelle H, Manuel Phaedra N, Eberhardt Juliana M, Miller C Ryan, Harms Ashley S, Herskowitz Jeremy H, Rizzardi Lindsay F, Arrant Andrew E
Abstract excerpt
Loss-of-function progranulin (GRN) mutations cause frontotemporal dementia with TDP-43 pathology (FTD-TDP). Nearly all pathogenic GRN mutations cause progranulin haploinsufficiency, but it is unclear how progranulin insufficiency causes FTD-TDP. To address this question, we crossed progranulin-insufficient mice with a human TDP-43 transgenic mouse line (RRID:IMSR_JAX:012836) in which homozygous mice (hTDP++)...
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