0000000000516288

AUTHOR

Chiara Paolantoni

showing 3 related works from this author

Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila

2021

Abstract N6‐methyladenosine (m6A) regulates a variety of physiological processes through modulation of RNA metabolism. This modification is particularly enriched in the nervous system of several species, and its dysregulation has been associated with neurodevelopmental defects and neural dysfunctions. In Drosophila, loss of m6A alters fly behavior, albeit the underlying molecular mechanism and the role of m6A during nervous system development have remained elusive. Here we find that impairment of the m6A pathway leads to axonal overgrowth and misguidance at larval neuromuscular junctions as well as in the adult mushroom bodies. We identify Ythdf as the main m6A reader in the nervous system,…

Nervous systemCancer ResearchAdenosineMessengerRNA-binding proteinBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyFragile X Mental Retardation Protein03 medical and health scienceschemistry.chemical_compound0302 clinical medicinemedicineAnimalsDrosophila ProteinsFmr1; RNA modification; Ythdf; m6A; nervous systemRNA MessengerFmr1Molecular BiologyDrosophila030304 developmental biologyNeurons0303 health sciencesGeneral Immunology and MicrobiologyProteomics and Chromatin BiologyGeneral Neurosciencenervous systemRNA-Binding ProteinsTranslation (biology)Articlesm6AProtein Biosynthesis & Quality ControlRNA modificationYthdfbiology.organism_classificationRNA BiologyFMR1Fmr1; RNA modification; Ythdf; m6A; nervous system; Adenosine; Animals; Axons; Drosophila Proteins; Drosophila melanogaster; Fragile X Mental Retardation Protein; Neurons; RNA Messenger; RNA-Binding ProteinsAxonsCell biologyDrosophila melanogastermedicine.anatomical_structurechemistryMushroom bodiesRNATarget mrnaN6-Methyladenosine030217 neurology & neurosurgeryNeuroscienceThe EMBO Journal
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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

2021

ABSTRACTFTSJ1 is a conserved human 2’-O-methyltransferase (Nm-MTase) that modifies several transfer RNAs (tRNAs) at position 32 and the wobble position 34 in the AntiCodon Loop (ACL). Its loss of function has been linked to Non-Syndromic X-Linked Intellectual Disability (NSXLID), and more recently to cancers. However, the molecular mechanisms underlying these pathologies are currently unclear. Here we report a novelFTSJ1pathogenic variant from a NSXLID patient. Using blood cells derived from this patient and other affected individuals carryingFTSJ1mutations, we performed an unbiased and comprehensive RiboMethSeq analysis to map the ribose methylation (Nm) on all human tRNAs and identify nov…

Transcriptomeeducation.field_of_studyNeuriteTransfer RNAmicroRNAPopulationMethylationBiologyeducationGeneLoss functionCell biology
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An exon junction complex‐independent function of Barentsz in neuromuscular synapse growth

2021

The exon junction complex controls the translation, degradation, and localization of spliced mRNAs, and three of its core subunits also play a role in splicing. Here, we show that a fourth subunit, Barentsz, has distinct functions within and separate from the exon junction complex in Drosophila neuromuscular development. The distribution of mitochondria in larval muscles requires Barentsz as well as other exon junction complex subunits and is not rescued by a Barentsz transgene in which residues required for binding to the core subunit eIF4AIII are mutated. In contrast, interactions with the exon junction complex are not required for Barentsz to promote the growth of neuromuscular synapses.…

ChemistryTransgeneProtein subunitMutantRNA-Binding ProteinsTranslation (biology)ExonsBiochemistryNeuromuscular junctionCell biologySynapsemedicine.anatomical_structureRNA splicingEukaryotic Initiation Factor-4ASynapsesGeneticsmedicineExon junction complexAnimalsDrosophila ProteinsDrosophilaMolecular BiologyReports
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