Stefano Gustincich

This study identifies TGS1 as a methyltransferase that modifies mRNAs encoding mitochondrial proteins in AML, promoting oxidative phosphorylation and cell survival, and shows its potential as a therapeutic target.

The paper describes a synthetic circRNA-derived IRES-like element, SynFarsa, that enhances translation of an endogenous protein, HSP90, in trans by targeting its 3'UTR.

The paper maps RNA-DNA interactions in 16 human cell types, showing cell-type-specific and dynamic networks that correlate with gene regulation and disease traits.

This study identifies BCLAF1 as a regulator linking RNA splicing to ATF4-dependent metabolic adaptation in AML, showing its role in sustaining leukemic cell survival and sensitivity to venetoclax.

The paper investigates METTL9's role in vertebrate neural development, finding its non-catalytic functions sustain neurogenesis through secretory pathway modulation.

GeNePi is a GPU-enhanced bioinformatics pipeline for WGS analysis that efficiently identifies genomic variants with performance comparable to state-of-the-art tools.

This paper introduces CFC-seq and SALA to sequence non-poly(A) RNAs, identifies 39,425 novel transcriptional units, and reveals a genomic code governing enhancer RNA fate based on promoter architecture.

This paper presents chromosome-scale genome assemblies and regulatory element annotations for planarians, revealing conservation of regulatory regions despite rapid structural divergence.

The paper estimates hybridization load in Alpine ibex due to hybridization with domestic goats, finding increased loss-of-function mutations in hybrids compared to non-hybrids.

The paper investigates sequence, structure, and functional features of SINE-derived RNAs in SINEUP non-coding RNAs, showing their role in post-transcriptional gene regulation through interactions with RBPs and ribosomal RNAs.

This study identifies SINEUP RNAs with Internal Ribosomal Entry Site (IRES) sequences as effector domains, enhancing translation of target mRNAs through both linear and circular transcripts.

This study shows Pgbd5 is essential for neuronal differentiation and radial migration in mouse corticogenesis, with effects on DNA double-strand breaks and gene expression.

The paper identifies a high-density miR-430 promoter cluster that forms a transcription body, enabling early gene activation during the minor wave of zygotic genome activation in zebrafish.

This study shows that the piRNA pathway is essential for adult neurogenesis by repressing protein synthesis and cellular senescence in mouse hippocampal neural progenitor cells.

This study shows that CHD8 suppression reduces H3K36me3 levels and alters alternative splicing of ~2000 genes, linking CHD8 to RNA processing and ASD.

The paper investigates somatic recombination of Alu and L1 repeat elements in human genomes, finding tissue-specific patterns and links to neurodegenerative diseases.

The paper identifies host proteins interacting with SARS-CoV-2 RNA ends, highlighting pseudouridine synthase PUS7 and post-transcriptional modifications in viral RNA structure and function.

The paper identifies LINE retrotransposons and long non-coding RNAs in octopus brains, suggesting their role in cognitive evolution through germline and somatic activity.

This study shows that transposable element activation contributes to neurodegeneration in a Drosophila Huntington's disease model and can be inhibited to rescue neurodegeneration and extend lifespan.

This study shows that neuronal hemoglobin overexpression in mice leads to dopaminergic neuron loss, cognitive deficits, and cleavage of α-synuclein.

The paper investigates how SINEUP lncRNAs enhance translation by interacting with PTBP1 and HNRNPK to facilitate translational initiation complexes in HEK293T/17 cells.