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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G. Spielmann M, et al. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11. Genome Res. 2016. PMID: 26755636 Free PMC article.
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. 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.