Article
Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.
The Journal of biological chemistry - 1 Jun 2012
Lang Christina M, Fellerer Katrin, Schwenk Benjamin M, Kuhn Peer-Hendrik, Kremmer Elisabeth, Edbauer Dieter, Capell Anja, Haass Christian
Abstract excerpt
TMEM106B was identified as a major risk factor in a genome-wide association study for frontotemporal lobar degeneration (FTLD) with TAR DNA-binding protein (TDP)-43 pathology. The most significant association of TMEM106B single nucleotide polymorphisms with risk of FTLD-TDP was observed in patients with progranulin (GRN) mutations. Subsequent studies suggested an inverse correlation between TMEM106B expression...
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