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Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: stracker th. medRxiv [Preprint]. 2023 Aug 24:2023.08.22.23294267. doi: 10.1101/2023.08.22.23294267. medRxiv. 2023. PMID: 37662408 Free PMC article. Preprint.
GEMC1 is a critical regulator of multiciliated cell differentiation.
Terré B, Piergiovanni G, Segura-Bayona S, Gil-Gómez G, Youssef SA, Attolini CS, Wilsch-Bräuninger M, Jung C, Rojas AM, Marjanović M, Knobel PA, Palenzuela L, López-Rovira T, Forrow S, Huttner WB, Valverde MA, de Bruin A, Costanzo V, Stracker TH. Terré B, et al. Among authors: stracker th. EMBO J. 2016 May 2;35(9):942-60. doi: 10.15252/embj.201592821. Epub 2016 Mar 1. EMBO J. 2016. PMID: 26933123 Free PMC article.
Differential requirements for Tousled-like kinases 1 and 2 in mammalian development.
Segura-Bayona S, Knobel PA, González-Burón H, Youssef SA, Peña-Blanco A, Coyaud É, López-Rovira T, Rein K, Palenzuela L, Colombelli J, Forrow S, Raught B, Groth A, de Bruin A, Stracker TH. Segura-Bayona S, et al. Among authors: stracker th. Cell Death Differ. 2017 Nov;24(11):1872-1885. doi: 10.1038/cdd.2017.108. Epub 2017 Jul 14. Cell Death Differ. 2017. PMID: 28708136 Free PMC article.
Molecular basis of Tousled-Like Kinase 2 activation.
Mortuza GB, Hermida D, Pedersen AK, Segura-Bayona S, López-Méndez B, Redondo P, Rüther P, Pozdnyakova I, Garrote AM, Muñoz IG, Villamor-Payà M, Jauset C, Olsen JV, Stracker TH, Montoya G. Mortuza GB, et al. Among authors: stracker th. Nat Commun. 2018 Jun 28;9(1):2535. doi: 10.1038/s41467-018-04941-y. Nat Commun. 2018. PMID: 29955062 Free PMC article.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. Among authors: stracker th. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Pathway-specific effects of ADSL deficiency on neurodevelopment.
Dutto I, Gerhards J, Herrera A, Souckova O, Škopová V, Smak JA, Junza A, Yanes O, Boeckx C, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH. Dutto I, et al. Among authors: stracker th. Elife. 2022 Feb 8;11:e70518. doi: 10.7554/eLife.70518. Elife. 2022. PMID: 35133277 Free PMC article.
SIRT1 regulates DNA damage signaling through the PP4 phosphatase complex.
Rasti G, Becker M, Vazquez BN, Espinosa-Alcantud M, Fernández-Duran I, Gámez-García A, Ianni A, Gonzalez J, Bosch-Presegué L, Marazuela-Duque A, Guitart-Solanes A, Segura-Bayona S, Bech-Serra JJ, Scher M, Serrano L, Shankavaram U, Erdjument-Bromage H, Tempst P, Reinberg D, Olivella M, Stracker TH, de la Torre C, Vaquero A. Rasti G, et al. Among authors: stracker th. Nucleic Acids Res. 2023 Jul 21;51(13):6754-6769. doi: 10.1093/nar/gkad504. Nucleic Acids Res. 2023. PMID: 37309898 Free PMC article.
66 results