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ZAKβ is activated by cellular compression and mediates contraction-induced MAP kinase signaling in skeletal muscle.
Nordgaard C, Vind AC, Stonadge A, Kjøbsted R, Snieckute G, Antas P, Blasius M, Reinert MS, Del Val AM, Bekker-Jensen DB, Haahr P, Miroshnikova YA, Mazouzi A, Falk S, Perrier-Groult E, Tiedje C, Li X, Jakobsen JR, Jørgensen NO, Wojtaszewski JF, Mallein-Gerin F, Andersen JL, Pennisi CP, Clemmensen C, Kassem M, Jafari A, Brummelkamp T, Li VS, Wickström SA, Olsen JV, Blanco G, Bekker-Jensen S. Nordgaard C, et al. Among authors: blanco g. EMBO J. 2022 Sep 1;41(17):e111650. doi: 10.15252/embj.2022111650. Epub 2022 Jul 28. EMBO J. 2022. PMID: 35899396 Free PMC article.
IGFN1_v1 is required for myoblast fusion and differentiation.
Li X, Baker J, Cracknell T, Haynes AR, Blanco G. Li X, et al. Among authors: blanco g. PLoS One. 2017 Jun 30;12(6):e0180217. doi: 10.1371/journal.pone.0180217. eCollection 2017. PLoS One. 2017. PMID: 28665998 Free PMC article.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. Vasli N, et al. Among authors: blanco g. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, LeProust E, Baker J, Cheeseman M, Carroll N, Denny P, Laval S, Lochmüller H, Ochala J, Blanco G. Kurapati R, et al. Among authors: blanco g. Hum Mol Genet. 2012 Apr 15;21(8):1706-24. doi: 10.1093/hmg/ddr605. Epub 2011 Dec 23. Hum Mol Genet. 2012. PMID: 22199023
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Corrochano S, et al. Among authors: blanco g. Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27. Brain. 2014. PMID: 25348630 Free PMC article.
636 results