Simone Maestri

Structure-function dissection of huntingtin exon 1 identifies a PRD-driven modifier of neuronal toxicity in Huntington's disease

The paper identifies the proline-rich domain (PRD) of HTT exon 1 as a modifier of neuronal toxicity in Huntington's disease, showing that the human PRD exacerbates while the mouse PRD mitigates toxicity.

Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2

The paper validates long-read sequencing methods for analyzing repeat expansions in DM2, identifying new repeat motifs and improving bioinformatic workflows.

Simultaneous detection of RNA modifications using In Vitro Transcription and Direct RNA Nanopore sequencing

The paper introduces an IVT-based method with dRNA-seq to detect RNA modifications across the transcriptome, identifying 26,619 modification sites and revealing non-random co-occurrence and isoform-specific patterns.

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

This study characterizes full-length CNBP repeat expansions in DM2 patients using Cas9-mediated nanopore sequencing, revealing novel repeat patterns and mosaicism.

Genomic structural variation in Nebbiolo grapevines at the individual, clonal and cultivar levels

The paper analyzes structural variants in Nebbiolo grapevines across individual, clonal, and cultivar levels using long-read and optical mapping data.

A rapid and accurate MinION-based workflow for tracking species biodiversity in the field

This paper introduces a portable workflow for on-site DNA barcoding using MinION sequencing and ONTrack pipeline, achieving high accuracy and low computational demand for field biodiversity tracking.