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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.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A. Monfrini E, et al. Among authors: rinchetti p. Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1. Parkinsonism Relat Disord. 2019. PMID: 30850329 Free 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.
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.
15 results