Simona Coppola

6PUBLICATIONS
39CO-AUTHORS
Cancer geneticsVision scienceEpigenetics (incl. genome methylation and epigenomics)Innate immunityMedical infection agents (incl. prions)
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Publications (6)

|May 29, 2026
A matter of switch: how RAC1 variants drive distinct disorders.

|Mar 14, 2026
A Novel Heterozygous <i>ARL3</i> Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles

|Jan 08, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Valentina Muto, Giulia Fasano, Francesca Clementina Radio

|Nov 16, 2024
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.

Alberto Iannuzzo, Selket Delafontaine, Rana El Masri

|Apr 14, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Manuela Priolo, Erika Zara, Francesca Clementina Radio

|Oct 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Michael T Lam, Simona Coppola, Oliver H F Krumbach

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Frequent Collaborators

6 joint publications

Marco Tartaglia

3 joint publications

Erika Zara

2 joint publications

Francesca Pantaleoni

2 joint publications

Marcello Niceta