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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y. Iuso A, et al. Among authors: wiersma m. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10. Am J Hum Genet. 2018. PMID: 29754768 Free PMC article.
Derailed Proteostasis as a Determinant of Cardiac Aging.
Wiersma M, Henning RH, Brundel BJ. Wiersma M, et al. Can J Cardiol. 2016 Sep;32(9):1166.e11-20. doi: 10.1016/j.cjca.2016.03.005. Epub 2016 Mar 19. Can J Cardiol. 2016. PMID: 27345610 Review.
Untying the knot: protein quality control in inherited cardiomyopathies.
Dorsch LM, Schuldt M, Knežević D, Wiersma M, Kuster DWD, van der Velden J, Brundel BJJM. Dorsch LM, et al. Among authors: wiersma m. Pflugers Arch. 2019 May;471(5):795-806. doi: 10.1007/s00424-018-2194-0. Epub 2018 Aug 14. Pflugers Arch. 2019. PMID: 30109411 Free PMC article. Review.
64 results