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Mariangela Sabatella

Mariangela Sabatella
Mariangela Sabatella
Initiation and development of cancer in children and young adults with cancer predisposition

The aim of my work is to identify and validate germline mutations that cause urinary bladder cancer predisposition by evaluating whole genome sequencing data of patient-parents trios. In addition, I investigate DNA mutation processes involved in tumor development in children with increased risk for cancer, including those with DNA repair syndromes.
  • C. elegans TFIIH subunit GTF-2H5/TTDA is a non-essential transcription factor indispensable for DNA repair

    • dec. 2021
    • Karen L., Thijssen, et al
    • Communications Biology
  • Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

    • okt. 2021
    • Mariangela, Sabatella, et al
    • The Journal of pathology
  • Tissue-Specific DNA Repair Activity of ERCC-1/XPF-1

    • jan. 2021
    • Mariangela, Sabatella, et al
    • Cell Reports
  • Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair

    • dec. 2020
    • Cristina, Ribeiro-Silva, et al
    • Nature Communications
  • ERCC1–XPF targeting to psoralen–DNA crosslinks depends on XPA and FANCD2

    • mei 2020
    • Mariangela, Sabatella, et al
    • Cellular and Molecular Life Sciences
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