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TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation.
Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2389-2394. doi: 10.1073/pnas.1616332114. Epub 2017 Feb 13.
Proc Natl Acad Sci U S A. 2017.
PMID: 28193887
Free PMC article.
Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.
Jinn S, Blauwendraat C, Toolan D, Gretzula CA, Drolet RE, Smith S, Nalls MA, Marcus J, Singleton AB, Stone DJ.
Jinn S, et al. Among authors: gretzula ca.
Hum Mol Genet. 2019 Oct 1;28(19):3244-3254. doi: 10.1093/hmg/ddz136.
Hum Mol Genet. 2019.
PMID: 31261387
Free PMC article.
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A novel glucosylceramide synthase inhibitor attenuates alpha synuclein pathology and lysosomal dysfunction in preclinical models of synucleinopathy.
Cosden M, Jinn S, Yao L, Gretzula CA, Kandebo M, Toolan D, Hatcher NG, Ma L, Lemaire W, Adam GC, Burlein C, Minnick C, Flick R, Watt ML, Mulhearn J, Fraley M, Drolet RE, Marcus JN, Smith SM.
Cosden M, et al. Among authors: gretzula ca.
Neurobiol Dis. 2021 Nov;159:105507. doi: 10.1016/j.nbd.2021.105507. Epub 2021 Sep 9.
Neurobiol Dis. 2021.
PMID: 34509608
Free article.
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Pharmacogenetic neuronal stimulation increases human tau pathology and trans-synaptic spread of tau to distal brain regions in mice.
Schultz MK Jr, Gentzel R, Usenovic M, Gretzula C, Ware C, Parmentier-Batteur S, Schachter JB, Zariwala HA.
Schultz MK Jr, et al.
Neurobiol Dis. 2018 Oct;118:161-176. doi: 10.1016/j.nbd.2018.07.003. Epub 2018 Jul 7.
Neurobiol Dis. 2018.
PMID: 30049665
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