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Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.
Relizani K, Mouisel E, Giannesini B, Hourdé C, Patel K, Morales Gonzalez S, Jülich K, Vignaud A, Piétri-Rouxel F, Fortin D, Garcia L, Blot S, Ritvos O, Bendahan D, Ferry A, Ventura-Clapier R, Schuelke M, Amthor H. Relizani K, et al. Mol Ther. 2014 Aug;22(8):1423-1433. doi: 10.1038/mt.2014.90. Epub 2014 May 27. Mol Ther. 2014. PMID: 24861054 Free PMC article.
Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle.
Mouisel E, Relizani K, Mille-Hamard L, Denis R, Hourdé C, Agbulut O, Patel K, Arandel L, Morales-Gonzalez S, Vignaud A, Garcia L, Ferry A, Luquet S, Billat V, Ventura-Clapier R, Schuelke M, Amthor H. Mouisel E, et al. Am J Physiol Regul Integr Comp Physiol. 2014 Aug 15;307(4):R444-54. doi: 10.1152/ajpregu.00377.2013. Epub 2014 Jun 25. Am J Physiol Regul Integr Comp Physiol. 2014. PMID: 24965795 Free article.
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Knierim E, et al. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924529 Free PMC article.
Aicardi-Goutières syndrome with muscle involvement in early infancy.
Deigendesch N, Morales-Gonzalez S, Weschke B, Goebel HH, Schuelke M, Stenzel W. Deigendesch N, et al. Neuropathol Appl Neurobiol. 2018 Dec;44(7):737-742. doi: 10.1111/nan.12454. Neuropathol Appl Neurobiol. 2018. PMID: 29210089 No abstract available.
22 results