Fabio Corsolini

Genoa, 16146, Italy

Last Updated: 09/26/2026

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Found 29 publications

Unmasking Celiac Disease Through Chronic Urticaria: Case Report and Scoping Review.

Unmasking Celiac Disease Through Chronic Urticaria: Case Report and Scoping Review.

Journal: Nutrients

Published: December 09, 2025

Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.

Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.

Journal: Cell death discovery

Published: September 15, 2025

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Journal: International journal of molecular sciences

Published: June 17, 2025

miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.

miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.

Journal: Cellular and molecular life sciences : CMLS

Published: February 28, 2025

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.

Journal: Molecular genetics and metabolism reports

Published: January 08, 2025

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Journal: Haematologica

Published: December 23, 2024

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Journal: International journal of molecular sciences

Published: December 12, 2023

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

Journal: Frontiers in genetics

Published: April 20, 2023

Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia.

Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia.

Journal: Antioxidants (Basel, Switzerland)

Published: February 13, 2023

Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1.

Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1.

Journal: International journal of molecular sciences

Published: December 19, 2022

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Journal: Frontiers in immunology

Published: February 03, 2022

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.

Journal: Metabolites

Published: December 03, 2021

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Last Updated: 09/26/2026