Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches
These results demonstrate mutation-specific pathogenetic mechanisms in POLR3A-HLD and underline the utility of integrative multi-omics approaches in elucidating the molecular basis of rare neurodevelopmental disorders.
Authors
- Jessica Rosati (ORCID: https://orcid.org/0000-0002-4483-386X)
- Massimo Marano (ORCID: https://orcid.org/0000-0001-9885-3666)
- Maxime Bonnet
- Federica Rey (ORCID: https://orcid.org/0000-0001-7944-3143)
- Letizia Esposito (ORCID: https://orcid.org/0000-0003-1621-599X)
- Clarissa Berardo (ORCID: https://orcid.org/0000-0002-1257-5843)
- Ylenia Vaia (ORCID: https://orcid.org/0009-0009-7105-7411)
- Davide Tonduti
- Mahsa Hazrati (ORCID: https://orcid.org/0000-0002-3218-7143)
- Stephana Carelli (ORCID: https://orcid.org/0000-0003-4603-396X)
- Amata Amy Soriano (ORCID: https://orcid.org/0000-0002-3687-9737)
- Domenico Raimondo (ORCID: https://orcid.org/0000-0002-1780-7295)
- Letizia Messa (ORCID: https://orcid.org/0000-0003-1718-2229)
- Alessia Casamassa (ORCID: https://orcid.org/0000-0001-6329-7153)
- Samuele Di Cristofano (ORCID: https://orcid.org/0000-0002-9618-9391)
- Ilaria Ferrone
- Francesco Nicita
- Cristina Cereda
- Fabio Bruschi
- Gianvincenzo Zuccotti
- Enrico Bertini
Institutions
- Abu Dhabi University (AE)
- Università Campus Bio-Medico (IT)
- University of Milan (IT)
- Casa Sollievo della Sofferenza (IT)
- Agenzia Spaziale Italiana (IT)
- Emirates Foundation (AE)
- Saint Camillus International University of Health and Medical Sciences (IT)
- IFOM (IT)
- Bambino Gesù Children's Hospital (IT)
- Ospedale dei Bambini Vittore Buzzi (IT)
- Istituto Pasteur (IT)
- ASST Fatebenefratelli Sacco (IT)
- Istituto Nazionale Genetica Molecolare (IT)
- Link Campus University (IT)
- Politecnico di Milano (IT)
Publication Details
- Journal
- Cell Communication and Signaling
- Published
- 2026-02-04
- DOI
- https://doi.org/10.1186/s12964-026-02693-7
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Università degli Studi di Milano
- Fondazione Cariplo
- Ministero della Salute
- Papua New Guinea University of Technology