Article
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia.
Disease models & mechanisms - 1 Dec 2023
Kuhrt Leonard D, Motta Edyta, Elmadany Nirmeen, Weidling Hannah, Fritsche-Guenther Raphaela, Efe Ibrahim E, Cobb Olivia, Chatterjee Jit, Boggs Lucy G, Schnauß Marina, Diecke Sebastian, Semtner Marcus, Anastasaki Corina, Gutmann David H, Kettenmann Helmut
Abstract excerpt
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by germline mutations in the neurofibromin 1 (NF1) gene. Children with NF1 are prone to the development of multiple nervous system abnormalities, including autism and brain tumors, which could reflect the effect of NF1 mutation on microglia function. Using heterozygous Nf1-mutant mice, we previously demonstrated that impaired purinergic...
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