Temperature-sensitive sarcomeric protein post-translational modifications revealed by top-down proteomics

Autor: Cai, Wenxuan, Hite, Zachary L., Lyu, Beini, Wu, Zhijie, Lin, Ziqing, Gregorich, Zachery R., Messer, Andrew E., McIlwain, Sean J., Marston, Steve B., Kohmoto, Takushi, Ge, Ying

Publikováno v: In Journal of Molecular and Cellular Cardiology September 2018 122:11-22

Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function

Autor: Chan, Chun, Fan, Jun, Messer, Andrew E., Marston, Steve B., Iwamoto, Hiroyuki, Ochala, Julien

Publikováno v: Chan, C, Fan, J, Messer, A E, Marston, S B, Iwamoto, H & Ochala, J 2016, ' Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function ', BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, vol. 1862, no. 8, pp. 1453-1458 . https://doi.org/10.1016/j.bbadis.2016.04.013

In humans, more than 200 missense mutations have been identified in the ACTA1 gene. The exact molecular mechanisms by which, these particular mutations become toxic and lead to muscle weakness and myopathies remain obscure. To address this, here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0713f78a2d835d9965be0617f2819026
https://kclpure.kcl.ac.uk/ws/files/106434646/Myopathy_inducing_mutation_CHAN_Accepted20April2016_GOLD_VoR_CC_BY_.pdf

Muscle weakness in TPM3-myopathy is due to reduced Ca²⁺-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Autor: Yuen, Michaela, Cooper, Sandra T., Marston, Steve B., Nowak, Kristen J., McNamara, Elyshia, Mokbel, Nancy, Ilkovski, Biljana, Ravenscroft, Gianina, Rendu, John, de Winter, Josine M., Klinge, Lars, Beggs, Alan H., North, Kathryn N., Ottenheijm, Coen A. C., Clarke, Nigel F.

Publikováno v: Human Molecular Genetics; 11/15/2015, Vol. 24 Issue 22, p6278-6292, 15p

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