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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Gao H, et al. Among authors: cotman sl. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21. Am J Hum Genet. 2002. PMID: 11791207 Free PMC article.
Lysosomal activity associated with developmental axon pruning.
Song JW, Misgeld T, Kang H, Knecht S, Lu J, Cao Y, Cotman SL, Bishop DL, Lichtman JW. Song JW, et al. Among authors: cotman sl. J Neurosci. 2008 Sep 3;28(36):8993-9001. doi: 10.1523/JNEUROSCI.0720-08.2008. J Neurosci. 2008. PMID: 18768693 Free PMC article.
Macroautophagy is defective in mucolipin-1-deficient mouse neurons.
Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA. Curcio-Morelli C, et al. Among authors: cotman sl. Neurobiol Dis. 2010 Nov;40(2):370-7. doi: 10.1016/j.nbd.2010.06.010. Epub 2010 Jun 28. Neurobiol Dis. 2010. PMID: 20600908 Free PMC article.
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL. Staropoli JF, et al. Among authors: cotman sl. PLoS One. 2012;7(6):e38310. doi: 10.1371/journal.pone.0038310. Epub 2012 Jun 6. PLoS One. 2012. PMID: 22701626 Free PMC article.
43 results