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Isabel Paiva, Jonathan Seguin, Iris Grgurina, Akash Kumar Singh, Brigitte Cosquer, et al.. Dysregulated expression of cholesterol biosynthetic genes in Alzheimer's disease alters epigenomic signatures of hippocampal neurons. Neurobiology of Disease, 2024, 198, pp.106538. ⟨10.1016/j.nbd.2024.106538⟩. ⟨hal-04714473⟩
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Albane E Le Maire, Martial Rey, Valérie Vivat, Laura Guée, Pauline Blanc, et al.. Design and in vitro characterization of RXR variants as tools to investigate the biological role of endogenous rexinoids. Journal of Molecular Endocrinology, 2022, 69 (3), pp.377-390. ⟨10.1530/JME-22-0021⟩. ⟨hal-04707267⟩
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Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka, Ewelina Jesion, Céline Keime, et al.. AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model. International Journal of Molecular Sciences, 2024, 25 (8), pp.4354. ⟨10.3390/ijms25084354⟩. ⟨hal-04699530⟩
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Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, et al.. Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics, 2024, 61 (7), pp.689-698. ⟨10.1136/jmg-2023-109728⟩. ⟨hal-04699527⟩
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Perrine Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, et al.. Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein. Genome Biology, 2023, 24 (1), pp.261. ⟨10.1186/s13059-023-03092-8⟩. ⟨hal-04651890⟩