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High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington's disease expansion mutation carriers shows normal mitochondrial respiratory function.
Buck E, Zügel M, Schumann U, Merz T, Gumpp AM, Witting A, Steinacker JM, Landwehrmeyer GB, Weydt P, Calzia E, Lindenberg KS. Buck E, et al. Among authors: witting a. PLoS One. 2017 Apr 13;12(4):e0175248. doi: 10.1371/journal.pone.0175248. eCollection 2017. PLoS One. 2017. PMID: 28406926 Free PMC article.
ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues.
Bayer H, Lang K, Buck E, Higelin J, Barteczko L, Pasquarelli N, Sprissler J, Lucas T, Holzmann K, Demestre M, Lindenberg KS, Danzer KM, Boeckers T, Ludolph AC, Dupuis L, Weydt P, Witting A. Bayer H, et al. Among authors: witting a. Neurobiol Dis. 2017 Jan;97(Pt A):36-45. doi: 10.1016/j.nbd.2016.11.001. Epub 2016 Nov 3. Neurobiol Dis. 2017. PMID: 27818323
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.
Scekic-Zahirovic J, Sendscheid O, El Oussini H, Jambeau M, Sun Y, Mersmann S, Wagner M, Dieterlé S, Sinniger J, Dirrig-Grosch S, Drenner K, Birling MC, Qiu J, Zhou Y, Li H, Fu XD, Rouaux C, Shelkovnikova T, Witting A, Ludolph AC, Kiefer F, Storkebaum E, Lagier-Tourenne C, Dupuis L. Scekic-Zahirovic J, et al. Among authors: witting a. EMBO J. 2016 May 17;35(10):1077-97. doi: 10.15252/embj.201592559. Epub 2016 Mar 7. EMBO J. 2016. PMID: 26951610 Free PMC article.
Ribosomal transcription is regulated by PGC-1alpha and disturbed in Huntington's disease.
Jesse S, Bayer H, Alupei MC, Zügel M, Mulaw M, Tuorto F, Malmsheimer S, Singh K, Steinacker J, Schumann U, Ludolph AC, Scharffetter-Kochanek K, Witting A, Weydt P, Iben S. Jesse S, et al. Among authors: witting a. Sci Rep. 2017 Aug 17;7(1):8513. doi: 10.1038/s41598-017-09148-7. Sci Rep. 2017. PMID: 28819135 Free PMC article.
Peripheral monocytes are functionally altered and invade the CNS in ALS patients.
Zondler L, Müller K, Khalaji S, Bliederhäuser C, Ruf WP, Grozdanov V, Thiemann M, Fundel-Clemes K, Freischmidt A, Holzmann K, Strobel B, Weydt P, Witting A, Thal DR, Helferich AM, Hengerer B, Gottschalk KE, Hill O, Kluge M, Ludolph AC, Danzer KM, Weishaupt JH. Zondler L, et al. Among authors: witting a. Acta Neuropathol. 2016 Sep;132(3):391-411. doi: 10.1007/s00401-016-1548-y. Epub 2016 Feb 24. Acta Neuropathol. 2016. PMID: 26910103
42 results