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Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy.
Hensel N, Cieri F, Santonicola P, Tapken I, Schüning T, Taiana M, Pagliari E, Joseph A, Fischer S, Heidrich N, Brinkmann H, Kubinski S, Bergmann AK, Richter MF, Jung K, Corti S, Di Schiavi E, Claus P. Hensel N, et al. Among authors: di schiavi e. Proc Natl Acad Sci U S A. 2021 May 4;118(18):e2007785118. doi: 10.1073/pnas.2007785118. Proc Natl Acad Sci U S A. 2021. PMID: 33931501 Free PMC article.
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG. Drongitis D, et al. Among authors: di schiavi e. Hum Mol Genet. 2022 Jun 4;31(11):1884-1908. doi: 10.1093/hmg/ddac028. Hum Mol Genet. 2022. PMID: 35094084 Free PMC article.
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Chen L, Roake CM, Maccallini P, Bavasso F, Dehghannasiri R, Santonicola P, Mendoza-Ferreira N, Scatolini L, Rizzuti L, Esposito A, Gallotta I, Francia S, Cacchione S, Galati A, Palumbo V, Kobin MA, Tartaglia GG, Colantoni A, Proietti G, Wu Y, Hammerschmidt M, De Pittà C, Sales G, Salzman J, Pellizzoni L, Wirth B, Di Schiavi E, Gatti M, Artandi SE, Raffa GD. Chen L, et al. Among authors: di schiavi e. Nucleic Acids Res. 2022 Nov 28;50(21):12400-12424. doi: 10.1093/nar/gkac659. Nucleic Acids Res. 2022. PMID: 35947650 Free PMC article.
48 results