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Retromer dysfunction in amyotrophic lateral sclerosis.
Pérez-Torres EJ, Utkina-Sosunova I, Mishra V, Barbuti P, De Planell-Saguer M, Dermentzaki G, Geiger H, Basile AO, Robine N, Fagegaltier D, Politi KA, Rinchetti P, Jackson-Lewis V; NYGC ALS Consortium; Harms M, Phatnani H, Lotti F, Przedborski S. Pérez-Torres EJ, et al. Among authors: rinchetti p. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2118755119. doi: 10.1073/pnas.2118755119. Epub 2022 Jun 24. Proc Natl Acad Sci U S A. 2022. PMID: 35749364 Free PMC article.
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
Richard P, Feng S, Tsai YL, Li W, Rinchetti P, Muhith U, Irizarry-Cole J, Stolz K, Sanz LA, Hartono S, Hoque M, Tadesse S, Seitz H, Lotti F, Hirano M, Chédin F, Tian B, Manley JL. Richard P, et al. Among authors: rinchetti p. Autophagy. 2021 Aug;17(8):1889-1906. doi: 10.1080/15548627.2020.1796292. Epub 2020 Aug 7. Autophagy. 2021. PMID: 32686621 Free PMC article.
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow.
Mishra V, Re DB, Le Verche V, Alvarez MJ, Vasciaveo A, Jacquier A, Doulias PT, Greco TM, Nizzardo M, Papadimitriou D, Nagata T, Rinchetti P, Perez-Torres EJ, Politi KA, Ikiz B, Clare K, Than ME, Corti S, Ischiropoulos H, Lotti F, Califano A, Przedborski S. Mishra V, et al. Among authors: rinchetti p. Nat Commun. 2020 Nov 4;11(1):5579. doi: 10.1038/s41467-020-19177-y. Nat Commun. 2020. PMID: 33149111 Free PMC article.
Sumoylation regulates the assembly and activity of the SMN complex.
Riboldi GM, Faravelli I, Kuwajima T, Delestrée N, Dermentzaki G, De Planell-Saguer M, Rinchetti P, Hao LT, Beattie CC, Corti S, Przedborski S, Mentis GZ, Lotti F. Riboldi GM, et al. Among authors: rinchetti p. Nat Commun. 2021 Aug 19;12(1):5040. doi: 10.1038/s41467-021-25272-5. Nat Commun. 2021. PMID: 34413305 Free PMC article.
SMN post-translational modifications in spinal muscular atrophy.
Riboldi GM, Faravelli I, Rinchetti P, Lotti F. Riboldi GM, et al. Among authors: rinchetti p. Front Cell Neurosci. 2023 Feb 17;17:1092488. doi: 10.3389/fncel.2023.1092488. eCollection 2023. Front Cell Neurosci. 2023. PMID: 36874214 Free PMC article. Review.
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Monfrini E, Arienti F, Rinchetti P, Lotti F, Riboldi GM. Monfrini E, et al. Among authors: rinchetti p. Int J Mol Sci. 2023 May 19;24(10):8995. doi: 10.3390/ijms24108995. Int J Mol Sci. 2023. PMID: 37240341 Free PMC article. Review.
Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration.
Dermentzaki G, Furlan M, Tanaka I, Leonardi T, Rinchetti P, Passos PMS, Bastos A, Ayala YM, Hanna JH, Przedborski S, Bonanomi D, Pelizzola M, Lotti F. Dermentzaki G, et al. Among authors: rinchetti p. Cell Rep. 2024 Apr 23;43(4):113999. doi: 10.1016/j.celrep.2024.113999. Epub 2024 Mar 30. Cell Rep. 2024. PMID: 38554281 Free article.
15 results