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GAPDH controls extracellular vesicle biogenesis and enhances the therapeutic potential of EV mediated siRNA delivery to the brain.
Dar GH, Mendes CC, Kuan WL, Speciale AA, Conceição M, Görgens A, Uliyakina I, Lobo MJ, Lim WF, El Andaloussi S, Mäger I, Roberts TC, Barker RA, Goberdhan DCI, Wilson C, Wood MJA. Dar GH, et al. Among authors: speciale aa. Nat Commun. 2021 Nov 18;12(1):6666. doi: 10.1038/s41467-021-27056-3. Nat Commun. 2021. PMID: 34795295 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: speciale aa. 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.
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: speciale aa. 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: speciale aa. Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. Print 2021 Aug. Sci Adv. 2021. PMID: 34417184 Free PMC article.
Author Correction: GAPDH controls extracellular vesicle biogenesis and enhances the therapeutic potential of EV mediated siRNA delivery to the brain.
Dar GH, Mendes CC, Kuan WL, Speciale AA, Conceição M, Görgens A, Uliyakina I, Lobo MJ, Lim WF, El Andaloussi S, Mäger I, Roberts TC, Barker RA, Goberdhan DCI, Wilson C, Wood MJA. Dar GH, et al. Among authors: speciale aa. Nat Commun. 2021 Dec 16;12(1):7357. doi: 10.1038/s41467-021-27700-y. Nat Commun. 2021. PMID: 34916508 Free PMC article. No abstract available.