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2021 2
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Page 1
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Bolaños JP, Medina DL. Soldati C, et al. Among authors: guevara ferrer m. EMBO Mol Med. 2021 Oct 7;13(10):e13742. doi: 10.15252/emmm.202013742. Epub 2021 Aug 19. EMBO Mol Med. 2021. PMID: 34411438 Free PMC article.
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, Burmistrova O, Bonora N, Alonso-Batan P, Morant-Ferrando B, Vicente-Gutierrez C, Jimenez-Blasco D, Quintana-Cabrera R, Fernandez E, Llop J, Ramos-Cabrer P, Sharaireh A, Guevara-Ferrer M, Fitzpatrick L, Thompton CD, McKay TR, Storch S, Medina DL, Mole SE, Fedichev PO, Almeida A, Bolaños JP. Lopez-Fabuel I, et al. Among authors: guevara ferrer m. Nat Commun. 2022 Jan 27;13(1):536. doi: 10.1038/s41467-022-28191-1. Nat Commun. 2022. PMID: 35087090 Free PMC article.
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R, Bampi GB, Guevara-Ferrer M, Santos LA, Joshi D, Mark D, Strug LJ, Rommens JM, Ballmann M, Sorscher EJ, Oliver KE, Ignatova Z. Rauscher R, et al. Among authors: guevara ferrer m. Proc Natl Acad Sci U S A. 2021 Jan 26;118(4):e2010612118. doi: 10.1073/pnas.2010612118. Proc Natl Acad Sci U S A. 2021. PMID: 33468668 Free PMC article.