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.

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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

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article

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches

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Cell Communication and Signaling
Genomics and Rare Diseases
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Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches

Jessica Rosati, Massimo Marano, Maxime Bonnet, Federica Rey, Letizia Esposito, Clarissa Berardo, Ylenia Vaia, Davide Tonduti, Mahsa Hazrati, Stephana Carelli, Amata Amy Soriano, Domenico Raimondo, Letizia Messa, Alessia Casamassa, Samuele Di Cristofano, Ilaria Ferrone, Francesco Nicita, Cristina Cereda, Fabio Bruschi, Gianvincenzo Zuccotti, Enrico Bertini
article en

Abstract

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.

Cell Communication and SignalingVol. 24(1)
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)
Università degli Studi di Milano, Fondazione Cariplo, Ministero della Salute, Papua New Guinea University of Technology
Openalex Percentile: Top 65%
Genomics and Rare Diseases
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