CORTI LAB
Publications
Recent publications (2025–2026)
Frizzi B, Barbosa Correia AM, Faravelli I, et al. Using human 3D organoid models to gain mechanistic insight in motor neuron diseases. Nat Rev Neurosci 2026;27(9):597-617.
Corti S, Alberti C, Ottoboni L, et al. Beyond motor neurons: peripheral TDP-43 pathology in skeletal muscle and intramuscular nerves in amyotrophic lateral sclerosis. Brain Commun 2026;8(4):fcag241.
Gagliardi D, Villella C, Zanovello M, et al. High prevalence of SOD1 pathogenic variants in the UK Biobank: implications for early intervention in amyotrophic lateral sclerosis. Ann Neurol 2026;99(6):1502-1515.
Ottoboni L, et al. Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies. Brain 2026;149(2):404-421.
Villella C, et al. PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy. J Neurol Neurosurg Psychiatry 2026.
Seseri N, et al. Electrical stimulation elicits space- and parameter-dependent spiking responses in human cortical organoids. Brain Stimul 2026;19(6):103222.
Alberti C, et al. Oculopharyngeal muscular dystrophy: from molecular pathogenesis to gene therapy. Mol Neurobiol 2026.
Pagliari E, et al. AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model. J Biomed Sci 2026;33(1):1.
Ottoboni L, et al. Skeletal muscle in spinal muscular atrophy: critical insights from pathogenesis to therapeutic strategies. Neurobiol Dis 2026;221:107324.
Alberti C, et al. RNA biomarkers in spinal muscular atrophy: enhancing pathogenesis understanding and guiding precision medicine. Cell Mol Life Sci 2026;83(1):176.
Abati E, et al. Investigating the role of serum NfL, FGF21, NCAM1 and GDF15 as disease biomarkers for Charcot-Marie-Tooth type 2A. Sci Rep 2026.
Cicala G, et al. The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study. EClinicalMedicine 2026;95:103931.
Faravelli I, Rinchetti P, Tambalo M, et al. Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids. Nat Commun 2025;17(1):988.
Rizzuti M, et al. Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models. Stem Cell Reports 2025;20(12):102711.
Rimoldi M, et al. Single nucleotide SMN1 variants in a cohort of individuals with spinal muscular atrophy. Neurol Genet 2025;11(5):e200286.
Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids
Using spinal cord and cerebral organoids from SMA type 1 patients, we show that early developmental defects, from altered neuronal differentiation to network hyperexcitability, are core features of SMA and can be prevented by early antisense oligonucleotide treatment.
Nat Commun. 2025 17(1):988. doi: 10.1038/s41467-025-67725-1.
Using human 3D organoid models to gain mechanistic insight in motor neuron diseases
This review discusses how human 3D organoids of brain, spinal cord and neuromuscular tissue are advancing our mechanistic understanding of motor neuron diseases such as ALS and SMA, and how they can be used to develop and test new therapies.
Nat Rev Neurosci. 2026 27(9):597-617. doi: 10.1038/s41583-026-01057-x.
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A
This study support the feasibility of a combined RNAi and gene therapy strategy for treating the broad spectrum of human diseases associated with MFN2 mutations.
Cell Mol Life Sci. 2023 80(12):373. doi: 10.1007/s00018-023-05018-w.
Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model
We conjugated antisense oligonucleotides with Morpholino chemistry to cell-penetrating peptides and demonstrated that they can significantly expand the therapeutic window through minimally invasive systemic administration, opening the path for clinical applications of this strategy.
Mol Ther. 2022 30(3):1288-1299. doi: 10.1016/j.ymthe.2021.11.012.
High prevalence of SOD1 pathogenic variants in the UK Biobank: implications for early intervention in amyotrophic lateral sclerosis
In about 470,000 UK Biobank participants we found that SOD1 pathogenic variants are far more common than expected, identifying over 100 presymptomatic carriers and supporting genetic screening and early intervention in ALS.
Ann Neurol. 2026 99(6):1502-1515. doi: 10.1002/ana.78195.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci.
Nat Genet. 2021 53(12):1636-1648. doi: 10.1038/s41588-021-00973-1.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Risdiplam resulted in a significant improvement in motor function compared with placebo in patients aged 2-25 years with type 2 or non-ambulant type 3 spinal muscular atrophy.
Lancet Neurol. 2022 21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
This paper demonstrates that SMN/SYNCRIP complex through motif 7 may account for selective motor neuron degeneration and represent a potential therapeutic target.
Brain. 2019 142(2):276-294. doi: 10.1093/brain/awy330.
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model
This study support the translational potential of AAV-mediated gene therapies for SMARD1, opening the door for AAV9-mediated therapy in human clinical trials.
Sci Adv. 2015 1(2):e1500078. doi: 10.1126/sciadv.1500078.
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
This study suggest that generating genetically corrected SMA-iPSCs and differentiating them into motor neurons may provide a source of motor neurons for therapeutic transplantation for SMA.
Sci Transl Med. 2012 4(165):165ra162. doi: 10.1126/scitranslmed.3004108.