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Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
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.
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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.
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