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Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colón-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: fratta p. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G. Bertolin C, et al. Among authors: fratta p. Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001. Eur J Neurol. 2016. PMID: 27141859
Uses for humanised mouse models in precision medicine for neurodegenerative disease.
Nair RR, Corrochano S, Gasco S, Tibbit C, Thompson D, Maduro C, Ali Z, Fratta P, Arozena AA, Cunningham TJ, Fisher EMC. Nair RR, et al. Among authors: fratta p. Mamm Genome. 2019 Aug;30(7-8):173-191. doi: 10.1007/s00335-019-09807-2. Epub 2019 Jun 15. Mamm Genome. 2019. PMID: 31203387 Free PMC article. Review.
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: fratta p. Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604141 Free PMC article.
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
Forouhan M, Lim WF, Zanetti-Domingues LC, Tynan CJ, Roberts TC, Malik B, Manzano R, Speciale AA, Ellerington R, Garcia-Guerra A, Fratta P, Sorarú G, Greensmith L, Pennuto M, Wood MJA, Rinaldi C. Forouhan M, et al. Among authors: fratta p. Acta Neuropathol. 2022 Jun;143(6):713-731. doi: 10.1007/s00401-022-02428-1. Epub 2022 May 6. Acta Neuropathol. 2022. PMID: 35522298 Free PMC article.
119 results