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Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, Neale BM, Turner MR, Veldink JH, Ophoff RA, Tripathi VB, Beleza A, Shah MN, Proitsi P, Van Hoecke A, Carmeliet P, Horvitz HR, Leigh PN, Shaw CE, van den Berg LH, Sham PC, Powell JF, Verstreken P, Brown RH Jr, Robberecht W, Al-Chalabi A. Simpson CL, et al. Among authors: verstreken p. Hum Mol Genet. 2009 Feb 1;18(3):472-81. doi: 10.1093/hmg/ddn375. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996918 Free PMC article.
HDAC6 is a Bruchpilot deacetylase that facilitates neurotransmitter release.
Miskiewicz K, Jose LE, Yeshaw WM, Valadas JS, Swerts J, Munck S, Feiguin F, Dermaut B, Verstreken P. Miskiewicz K, et al. Among authors: verstreken p. Cell Rep. 2014 Jul 10;8(1):94-102. doi: 10.1016/j.celrep.2014.05.051. Epub 2014 Jun 26. Cell Rep. 2014. PMID: 24981865 Free article.
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
Dubos A, Castells-Nobau A, Meziane H, Oortveld MA, Houbaert X, Iacono G, Martin C, Mittelhaeuser C, Lalanne V, Kramer JM, Bhukel A, Quentin C, Slabbert J, Verstreken P, Sigrist SJ, Messaddeq N, Birling MC, Selloum M, Stunnenberg HG, Humeau Y, Schenck A, Herault Y. Dubos A, et al. Among authors: verstreken p. Hum Mol Genet. 2015 Dec 1;24(23):6736-55. doi: 10.1093/hmg/ddv380. Epub 2015 Sep 16. Hum Mol Genet. 2015. PMID: 26376863 Free PMC article.
Tau association with synaptic vesicles causes presynaptic dysfunction.
Zhou L, McInnes J, Wierda K, Holt M, Herrmann AG, Jackson RJ, Wang YC, Swerts J, Beyens J, Miskiewicz K, Vilain S, Dewachter I, Moechars D, De Strooper B, Spires-Jones TL, De Wit J, Verstreken P. Zhou L, et al. Among authors: verstreken p. Nat Commun. 2017 May 11;8:15295. doi: 10.1038/ncomms15295. Nat Commun. 2017. PMID: 28492240 Free PMC article.
135 results