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Type I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice. Kordala AJ, Ahlskog N, Stoodley J, Hanifi M, Lim WF, Hammond SH, Wood MJ, Rinaldi C. EMBO Mol Med 2023 Sep 19;e17683.

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LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice. Prakasam P, Bonadiman A, Andreotti R, et al. Nat Commun 2023 Feb 6;14(1):603.

 

RNA Transcript Diversity in Neuromuscular Research. Lim WF, Rinaldi C. J Neuromuscul Dis. 2023;10(4):473-482.

 

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. Acta Neuropathol. 2022 Jun;143(6):713-731.

 

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.  Lim WF, Dabney J, Forouhan M, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee B, Conceicao M, Cravo L, Lobo MJ, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJ, Rinaldi C. 2021 Science Advances doi: 10.1126/sciadv.abi6896.

 

Engineering of backbone chemistry and chirality boost oligonucleotide splice switching activity. Kandasamy P, …, Rinaldi C, Rajão-Saraiva J, Yang H, Yin Y, Zhang J, Zhao A, Zhou C, Apponi L, Wood MJ, Vargeese C. Nucleic Acids Res. 2022. doi: 10.1093/nar/gkac018.

 

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy. Winkelsas AM, Grunseich C, Harmison GG, Chwalenia K, Rinaldi C, Hammond SM, Johnson K, Bowerman M, Arya S, Talbot K, Wood MJ, Fischbeck KH. Mol Ther Nucleic Acids. 2021 Jan 5;23:731-742.

 

Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease. Manzano R, Soraru G, Grunseich C, Fratta P, Pennuto M, Fischneck K, Rinaldi C. Journal of Neurology, Neurosurgery and Psychiatry. 2018. 2018 Aug;89(8):808-812.

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Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Rinaldi C, Wood MJ. Nature Rev Neurol. 2018;14(1):9-21.​

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MiR-298 counteracts mutant androgen receptor toxicity in spinal and bulbar muscular atrophy. Pourshafie N, Lee PR, Chen K, Harmison GG, Bott LC, Burnett BG, Fischbeck KH and Rinaldi C. Mol Ther. 2015;24:937-45.