Article
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Nucleic acids research - 28 Nov 2022
Chen Lu, Roake Caitlin M, Maccallini Paolo, Bavasso Francesca, Dehghannasiri Roozbeh, Santonicola Pamela, Mendoza-Ferreira Natalia, Scatolini Livia, Rizzuti Ludovico, Esposito Alessandro, Gallotta Ivan, Francia Sofia, Cacchione Stefano, Galati Alessandra, Palumbo Valeria, Kobin Marie A, Tartaglia Gian Gaetano, Colantoni Alessio, Proietti Gabriele, Wu Yunming, Hammerschmidt Matthias, De Pittà Cristiano, Sales Gabriele, Salzman Julia, Pellizzoni Livio, Wirth Brunhilde, Di Schiavi Elia, Gatti Maurizio, Artandi Steven E, Raffa Grazia D
Abstract excerpt
Trimethylguanosine synthase 1 (TGS1) is a highly conserved enzyme that converts the 5'-monomethylguanosine cap of small nuclear RNAs (snRNAs) to a trimethylguanosine cap. Here, we show that loss of TGS1 in Caenorhabditis elegans, Drosophila melanogaster and Danio rerio results in neurological phenotypes similar to those caused by survival motor neuron (SMN) deficiency. Importantly, expression of human TGS1...
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