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Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.
Prondzynski M, Lemoine MD, Zech AT, Horváth A, Di Mauro V, Koivumäki JT, Kresin N, Busch J, Krause T, Krämer E, Schlossarek S, Spohn M, Friedrich FW, Münch J, Laufer SD, Redwood C, Volk AE, Hansen A, Mearini G, Catalucci D, Meyer C, Christ T, Patten M, Eschenhagen T, Carrier L. Prondzynski M, et al. EMBO Mol Med. 2019 Dec;11(12):e11115. doi: 10.15252/emmm.201911115. Epub 2019 Nov 3. EMBO Mol Med. 2019. PMID: 31680489 Free PMC article.
Organismal benefits of transcription speed control at gene boundaries.
Leng X, Ivanov M, Kindgren P, Malik I, Thieffry A, Brodersen P, Sandelin A, Kaplan CD, Marquardt S. Leng X, et al. EMBO Rep. 2020 Apr 3;21(4):e49315. doi: 10.15252/embr.201949315. Epub 2020 Feb 27. EMBO Rep. 2020. PMID: 32103605 Free PMC article.
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, van de Warrenburg B, Hengel H, Lima M, Filla A, Durr A, Melegh B, Masciullo M, Infante J, Giunti P, Neumann M, de Vries J, Pereira de Almeida L, Rakowicz M, Jacobi H, Schüle R, Kaeser SA, Kuhle J, Klockgether T, Schöls L; SCA3 neurofilament study group; Barro C, Hübener-Schmid J, Synofzik M. Wilke C, et al. EMBO Mol Med. 2020 Jul 7;12(7):e11803. doi: 10.15252/emmm.201911803. Epub 2020 Jun 8. EMBO Mol Med. 2020. PMID: 32510847 Free PMC article.
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.
Magnotti F, Lefeuvre L, Benezech S, Malsot T, Waeckel L, Martin A, Kerever S, Chirita D, Desjonqueres M, Duquesne A, Gerfaud-Valentin M, Laurent A, Sève P, Popoff MR, Walzer T, Belot A, Jamilloux Y, Henry T. Magnotti F, et al. EMBO Mol Med. 2019 Nov 7;11(11):e10547. doi: 10.15252/emmm.201910547. Epub 2019 Oct 7. EMBO Mol Med. 2019. PMID: 31589380 Free PMC article.
The long journey towards standards for engineering biosystems: Are the Molecular Biology and the Biotech communities ready to standardise?
Beal J, Goñi-Moreno A, Myers C, Hecht A, de Vicente MDC, Parco M, Schmidt M, Timmis K, Baldwin G, Friedrichs S, Freemont P, Kiga D, Ordozgoiti E, Rennig M, Rios L, Tanner K, de Lorenzo V, Porcar M. Beal J, et al. EMBO Rep. 2020 May 6;21(5):e50521. doi: 10.15252/embr.202050521. Epub 2020 Apr 26. EMBO Rep. 2020. PMID: 32337821 Free PMC article.