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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N. Sarli C, et al. Among authors: brunetti pierri n. Am J Med Genet C Semin Med Genet. 2024 Jun 17:e32089. doi: 10.1002/ajmg.c.32089. Online ahead of print. Am J Med Genet C Semin Med Genet. 2024. PMID: 38884529
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage response.
Lim LQJ, Adler L, Hajaj E, Soria LR, Perry RB, Darzi N, Brody R, Furth N, Lichtenstein M, Bab-Dinitz E, Porat Z, Melman T, Brandis A, Aylon Y, Ben-Dor S, Orr I, Pri-Or A, Seger R, Shaul Y, Ruppin E, Oren M, Perez M, Meier J, Brunetti-Pierri N, Shema E, Ulitsky I, Erez A, Malitsky S, Itkin M. Lim LQJ, et al. Among authors: brunetti pierri n. Nat Metab. 2024 Jun 10. doi: 10.1038/s42255-024-01060-5. Online ahead of print. Nat Metab. 2024. PMID: 38858597
A gene silencing-based approach to tackle fatty liver disease.
Strnad P, Schrader C, Brunetti-Pierri N. Strnad P, et al. Among authors: brunetti pierri n. Mol Ther Methods Clin Dev. 2024 Feb 9;32(1):101198. doi: 10.1016/j.omtm.2024.101198. eCollection 2024 Mar 14. Mol Ther Methods Clin Dev. 2024. PMID: 38371609 Free PMC article. No abstract available.
Vision on gyrate atrophy: why treat the liver?
Boffa I, Brunetti-Pierri N. Boffa I, et al. Among authors: brunetti pierri n. EMBO Mol Med. 2024 Jan;16(1):8-9. doi: 10.1038/s44321-023-00002-0. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177527 Free PMC article.
Liver-directed gene therapy for inherited metabolic diseases.
Baruteau J, Brunetti-Pierri N, Gissen P. Baruteau J, et al. Among authors: brunetti pierri n. J Inherit Metab Dis. 2024 Jan;47(1):9-21. doi: 10.1002/jimd.12709. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171926 Review.
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
De Falco A, Karali M, Criscuolo C, Testa F, Barillari MR, Scarpato M, Gaudieri V, Cuocolo A, Russo A, Nigro V, Simonelli F, Banfi S, Brunetti-Pierri N. De Falco A, et al. Among authors: brunetti pierri n. Am J Med Genet A. 2024 May;194(5):e63517. doi: 10.1002/ajmg.a.63517. Epub 2023 Dec 27. Am J Med Genet A. 2024. PMID: 38149346
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: brunetti pierri n. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
263 results