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Page 1
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: ellerington r. 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.
Control of backbone chemistry and chirality boost oligonucleotide splice switching activity.
Kandasamy P, McClorey G, Shimizu M, Kothari N, Alam R, Iwamoto N, Kumarasamy J, Bommineni GR, Bezigian A, Chivatakarn O, Butler DCD, Byrne M, Chwalenia K, Davies KE, Desai J, Shelke JD, Durbin AF, Ellerington R, Edwards B, Godfrey J, Hoss A, Liu F, Longo K, Lu G, Marappan S, Oieni J, Paik IH, Estabrook EP, Shivalila C, Tischbein M, Kawamoto T, Rinaldi C, Rajão-Saraiva J, Tripathi S, Yang H, Yin Y, Zhao X, Zhou C, Zhang J, Apponi L, Wood MJA, Vargeese C. Kandasamy P, et al. Among authors: ellerington r. Nucleic Acids Res. 2022 Jun 10;50(10):5443-5466. doi: 10.1093/nar/gkac018. Nucleic Acids Res. 2022. PMID: 35061895 Free PMC article.
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Among authors: ellerington r. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C. Lim WF, et al. Among authors: ellerington r. Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. Print 2021 Aug. Sci Adv. 2021. PMID: 34417184 Free PMC article.