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Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance; Arzberger T, Edbauer D. Schludi MH, et al. Among authors: klopstock t. Acta Neuropathol. 2015 Oct;130(4):537-55. doi: 10.1007/s00401-015-1450-z. Epub 2015 Jun 18. Acta Neuropathol. 2015. PMID: 26085200 Free PMC article.
Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.
Stribl C, Samara A, Trümbach D, Peis R, Neumann M, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Rathkolb B, Wolf E, Beckers J, Horsch M, Neff F, Kremmer E, Koob S, Reichert AS, Hans W, Rozman J, Klingenspor M, Aichler M, Walch AK, Becker L, Klopstock T, Glasl L, Hölter SM, Wurst W, Floss T. Stribl C, et al. Among authors: klopstock t. J Biol Chem. 2014 Apr 11;289(15):10769-10784. doi: 10.1074/jbc.M113.515940. Epub 2014 Feb 10. J Biol Chem. 2014. PMID: 24515116 Free PMC article.
Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance; Arzberger T, Edbauer D. Schludi MH, et al. Among authors: klopstock t. Acta Neuropathol. 2015 Oct;130(4):557-8. doi: 10.1007/s00401-015-1464-6. Acta Neuropathol. 2015. PMID: 26290407 Free PMC article.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Kremer LS, et al. Among authors: klopstock t. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805782 Free PMC article.
TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons.
Schwenk BM, Hartmann H, Serdaroglu A, Schludi MH, Hornburg D, Meissner F, Orozco D, Colombo A, Tahirovic S, Michaelsen M, Schreiber F, Haupt S, Peitz M, Brüstle O, Küpper C, Klopstock T, Otto M, Ludolph AC, Arzberger T, Kuhn PH, Edbauer D. Schwenk BM, et al. Among authors: klopstock t. EMBO J. 2016 Nov 2;35(21):2350-2370. doi: 10.15252/embj.201694221. Epub 2016 Sep 12. EMBO J. 2016. PMID: 27621269 Free PMC article.
372 results