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Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.
Sibbing D, Pfeufer A, Perisic T, Mannes AM, Fritz-Wolf K, Unwin S, Sinner MF, Gieger C, Gloeckner CJ, Wichmann HE, Kremmer E, Schäfer Z, Walch A, Hinterseer M, Näbauer M, Kääb S, Kastrati A, Schömig A, Meitinger T, Bornkamm GW, Conrad M, von Beckerath N. Sibbing D, et al. Among authors: gloeckner cj. Eur Heart J. 2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. Eur Heart J. 2011. PMID: 21247928
The LRRK2 G2385R variant is a partial loss-of-function mutation that affects synaptic vesicle trafficking through altered protein interactions.
Carrion MDP, Marsicano S, Daniele F, Marte A, Pischedda F, Di Cairano E, Piovesana E, von Zweydorf F, Kremmer E, Gloeckner CJ, Onofri F, Perego C, Piccoli G. Carrion MDP, et al. Among authors: gloeckner cj. Sci Rep. 2017 Jul 14;7(1):5377. doi: 10.1038/s41598-017-05760-9. Sci Rep. 2017. PMID: 28710481 Free PMC article.
ATP-competitive LRRK2 inhibitors interfere with monoclonal antibody binding to the kinase domain of LRRK2 under native conditions. A method to directly monitor the active conformation of LRRK2?
Gillardon F, Kremmer E, Froehlich T, Ueffing M, Hengerer B, Gloeckner CJ. Gillardon F, et al. Among authors: gloeckner cj. J Neurosci Methods. 2013 Mar 30;214(1):62-8. doi: 10.1016/j.jneumeth.2012.12.015. Epub 2013 Jan 12. J Neurosci Methods. 2013. PMID: 23318290
Leucine-rich repeat kinase 2 binds to neuronal vesicles through protein interactions mediated by its C-terminal WD40 domain.
Piccoli G, Onofri F, Cirnaru MD, Kaiser CJ, Jagtap P, Kastenmüller A, Pischedda F, Marte A, von Zweydorf F, Vogt A, Giesert F, Pan L, Antonucci F, Kiel C, Zhang M, Weinkauf S, Sattler M, Sala C, Matteoli M, Ueffing M, Gloeckner CJ. Piccoli G, et al. Among authors: gloeckner cj. Mol Cell Biol. 2014 Jun;34(12):2147-61. doi: 10.1128/MCB.00914-13. Epub 2014 Mar 31. Mol Cell Biol. 2014. PMID: 24687852 Free PMC article.
LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool.
Piccoli G, Condliffe SB, Bauer M, Giesert F, Boldt K, De Astis S, Meixner A, Sarioglu H, Vogt-Weisenhorn DM, Wurst W, Gloeckner CJ, Matteoli M, Sala C, Ueffing M. Piccoli G, et al. Among authors: gloeckner cj. J Neurosci. 2011 Feb 9;31(6):2225-37. doi: 10.1523/JNEUROSCI.3730-10.2011. J Neurosci. 2011. PMID: 21307259 Free PMC article.
87 results