Erika Zara
Rome, Italy
Last Updated: 09/26/2026
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Found 10 publications
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.
Journal: Science immunology
Published: August 07, 2026
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.
Journal: Brain : a journal of neurology
Published: November 26, 2025
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
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.
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.
Journal: Frontiers in immunology
Published: November 19, 2021
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
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Journal: The Journal of experimental medicine
Published: January 23, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026