Article
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
Journal of neurochemistry - 1 Sept 2013
Nicholson Alexandra M, Finch Nicole A, Wojtas Aleksandra, Baker Matt C, Perkerson Ralph B, Castanedes-Casey Monica, Rousseau Linda, Benussi Luisa, Binetti Giuliano, Ghidoni Roberta, Hsiung Ging-Yuek R, Mackenzie Ian R, Finger Elizabeth, Boeve Bradley F, Ertekin-Taner Nilüfer, Graff-Radford Neill R, Dickson Dennis W, Rademakers Rosa
Abstract excerpt
Frontotemporal lobar degeneration (FTLD) is the second leading cause of dementia in individuals under age 65. In many patients, the predominant pathology includes neuronal cytoplasmic or intranuclear inclusions of ubiquitinated TAR DNA binding protein 43 (FTLD-TDP). Recently, a genome-wide association study identified the first FTLD-TDP genetic risk factor, in which variants in and around the TMEM106B gene (top...
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