Article
The FTLD Risk Factor TMEM106B Regulates the Transport of Lysosomes at the Axon Initial Segment of Motoneurons.
Cell reports - 10 Mar 2020
Lüningschrör Patrick, Werner Georg, Stroobants Stijn, Kakuta Soichiro, Dombert Benjamin, Sinske Daniela, Wanner Renate, Lüllmann-Rauch Renate, Wefers Benedikt, Wurst Wolfgang, D'Hooge Rudi, Uchiyama Yasuo, Sendtner Michael, Haass Christian, Saftig Paul, Knöll Bernd, Capell Anja, Damme Markus
Abstract excerpt
Genetic variations in TMEM106B, coding for a lysosomal membrane protein, affect frontotemporal lobar degeneration (FTLD) in GRN- (coding for progranulin) and C9orf72-expansion carriers and might play a role in aging. To determine the physiological function of TMEM106B, we generated TMEM106B-deficient mice. These mice develop proximal axonal swellings caused by drastically enlarged LAMP1-positive vacuoles,...
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