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CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease.
Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Martí-Sánchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R, Lucas JJ. Picó S, et al. Among authors: belloc e. Sci Transl Med. 2021 Sep 29;13(613):eabe7104. doi: 10.1126/scitranslmed.abe7104. Epub 2021 Sep 29. Sci Transl Med. 2021. PMID: 34586830 Free article.
Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.
Parras A, Anta H, Santos-Galindo M, Swarup V, Elorza A, Nieto-González JL, Picó S, Hernández IH, Díaz-Hernández JI, Belloc E, Rodolosse A, Parikshak NN, Peñagarikano O, Fernández-Chacón R, Irimia M, Navarro P, Geschwind DH, Méndez R, Lucas JJ. Parras A, et al. Among authors: belloc e. Nature. 2018 Aug;560(7719):441-446. doi: 10.1038/s41586-018-0423-5. Epub 2018 Aug 15. Nature. 2018. PMID: 30111840 Free PMC article.
Comparative analyses of vertebrate CPEB proteins define two subfamilies with coordinated yet distinct functions in post-transcriptional gene regulation.
Duran-Arqué B, Cañete M, Castellazzi CL, Bartomeu A, Ferrer-Caelles A, Reina O, Caballé A, Gay M, Arauz-Garofalo G, Belloc E, Mendez R. Duran-Arqué B, et al. Among authors: belloc e. Genome Biol. 2022 Sep 12;23(1):192. doi: 10.1186/s13059-022-02759-y. Genome Biol. 2022. PMID: 36096799 Free PMC article.
Pathogenic Mis-splicing of CPEB4 in Schizophrenia.
Ollà I, Pardiñas AF, Parras A, Hernández IH, Santos-Galindo M, Picó S, Callado LF, Elorza A, Rodríguez-López C, Fernández-Miranda G, Belloc E, Walters JTR, O'Donovan MC, Méndez R, Toma C, Meana JJ, Owen MJ, Lucas JJ. Ollà I, et al. Among authors: belloc e. Biol Psychiatry. 2023 Aug 15;94(4):341-351. doi: 10.1016/j.biopsych.2023.03.010. Epub 2023 Mar 22. Biol Psychiatry. 2023. PMID: 36958377 Free article.
12 results