Publications by authors named "M P Huarte"
Long non-coding RNAs (lncRNAs) play fundamental roles in cellular processes and pathologies, regulating gene expression at multiple levels. Despite being highly cell type-specific, their study at single-cell (sc) level is challenging due to their less accurate annotation and low expression compared to protein-coding genes. Here, we systematically benchmark different preprocessing methods and develop a computational framework, named ELATUS, based on the combination of the pseudoaligner Kallisto with selective functional filtering.
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- Wilson disease is a genetic disorder affecting copper metabolism, primarily linked to mutations in the ATP7B gene, showing a wide range of clinical symptoms among patients.
- A study of 260 patients revealed that some common mutations, particularly p.Met645Arg and p.Gly869Arg, are underreported due to their milder symptoms, leading to a higher estimated prevalence than recorded (1:3,785, suggesting over 10,500 potential cases in Spain).
- The findings indicate that individuals with the p.Met645Arg mutation often have fewer severe symptoms at diagnosis and are more likely to be diagnosed later in life, underscoring the need for increased awareness and early intervention.
Cells have evolved a robust and highly regulated DNA damage response to preserve their genomic integrity. Although increasing evidence highlights the relevance of RNA regulation, our understanding of its impact on a fully efficient DNA damage response remains limited. Here, through a targeted CRISPR-knockout screen, we identify RNA-binding proteins and modifiers that participate in the p53 response.
View Article and Find Full Text PDFBesides the well-characterized protein network involved in the replication stress response, several regulatory RNAs have been shown to play a role in this critical process. However, it has remained elusive whether they act locally at the stressed forks. Here, by investigating the RNAs localizing on chromatin upon replication stress induced by hydroxyurea, we identified a set of lncRNAs upregulated in S-phase and controlled by stress transcription factors.
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- The study investigates using adeno-associated viral vector (AAV) with paired Staphylococcus aureus nickases (D10ASaCas9) for safely disrupting the Hao1 gene to treat primary hyperoxaluria type 1 (PH1).
- Results show effective gene disruption without off-target effects, leading to improved therapeutic outcomes in PH1 mice.
- The research emphasizes the need for better analytical tools to evaluate genetic modifications and suggests this method as a promising long-term treatment option for PH1 patients.