Simona Coppola

Rome, Italy

Last Updated: 09/26/2026

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Found 19 publications

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Journal: Science immunology

Published: August 07, 2026

A matter of switch: how RAC1 variants drive distinct disorders.

A matter of switch: how RAC1 variants drive distinct disorders.

Journal: European journal of human genetics : EJHG

Published: May 12, 2026

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Journal: International journal of molecular sciences

Published: January 28, 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Journal: European journal of human genetics : EJHG

Published: September 11, 2025

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.

Journal: Nature communications

Published: January 26, 2024

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Journal: European journal of human genetics : EJHG

Published: November 21, 2022

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Journal: Human molecular genetics

Published: February 23, 2022

Pro Nerve Growth Factor and Its Receptor p75NTR Activate Inflammatory Responses in Synovial Fibroblasts: A Novel Targetable Mechanism in Arthritis.

Pro Nerve Growth Factor and Its Receptor p75NTR Activate Inflammatory Responses in Synovial Fibroblasts: A Novel Targetable Mechanism in Arthritis.

Journal: Frontiers in immunology

Published: November 19, 2021

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.

Journal: The Journal of allergy and clinical immunology

Published: October 13, 2021

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Journal: Nature communications

Published: July 02, 2021

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Journal: Human molecular genetics

Published: April 11, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026