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The TLK-ASF1 histone chaperone pathway plays a critical role in IL-1b-mediated AML progression.
Lin HY, M Hosseini M, McClatchy J, Villamor-Payà M, Jeng S, Bottomly D, Tsai CF, Posso C, Jacobson J, Adey AC, Gosline SJC, Liu T, McWeeney SK, Stracker TH, Agarwal A. Lin HY, et al. Among authors: villamor paya m. Blood. 2024 Mar 18:blood.2023022079. doi: 10.1182/blood.2023022079. Online ahead of print. Blood. 2024. PMID: 38498025 Free article.
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. medRxiv [Preprint]. 2023 Aug 24:2023.08.22.23294267. doi: 10.1101/2023.08.22.23294267. medRxiv. 2023. PMID: 37662408 Free PMC article. Preprint.
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: villamor paya m. 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.
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: villamor paya m. Nat Commun. 2018 Jun 28;9(1):2535. doi: 10.1038/s41467-018-04941-y. Nat Commun. 2018. PMID: 29955062 Free PMC article.