CORTI LAB
Publications
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Among GC-rich tandem repeat expansions (TREs) that underlie several congenital and late-onset disorders, AFF3 expansions represent a major cause of neurodevelopmental delay.
Nat Genet. 2024. doi: 10.1038/s41588-024-01917-1. Online ahead of print.
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS
This study highlights the relative specificity of CHIT1 for ALS among neurodegenerative diseases and appraises the potential diagnostic utility of CSF miR-181b.
J Neurol. 2024. doi: 10.1007/s00415-024-12699-1. Online ahead of print.
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.
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
This report adds p.L144S to the short list of homozygous SOD1 variants and suggests that the development of an earlier-onset and/or faster disease progression can occur when 2 mutated alleles are present.
Neurol Genet. 2021 8(1):e645. doi: 10.1212/NXG.0000000000000645.
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 Gene. 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.