Article
Lack of a protective effect of the Tmem106b "protective SNP" in the Grn knockout mouse model for frontotemporal lobar degeneration.
Acta neuropathologica communications - 27 Jan 2023
Cabron Anne-Sophie, Borgmeyer Uwe, Richter Julia, Peisker Helga, Gutbrod Katharina, Dörmann Peter, Capell Anja, Damme Markus
Abstract excerpt
Genetic variants in TMEM106B are a common risk factor for frontotemporal lobar degeneration and the most important modifier of disease risk in patients with progranulin (GRN) mutations (FTLD-GRN). TMEM106B is encoding a lysosomal transmembrane protein of unknown molecular function. How it mediates its disease-modifying function remains enigmatic. Several TMEM106B single nucleotide polymorphisms (SNPs) are...
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