Roberta Bottega

Trieste, Italy

Last Updated: 09/26/2026

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Found 31 publications

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

Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

Journal: Genes

Published: December 06, 2024

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Journal: Cells

Published: November 22, 2024

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

Journal: British journal of haematology

Published: November 13, 2023

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.

Journal: Frontiers in genetics

Published: June 15, 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

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

Journal: British journal of haematology

Published: March 31, 2023

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Journal: Haematologica

Published: March 04, 2022

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.

Journal: Haematologica

Published: February 04, 2022

Anti-inflammatory properties of a proprietary bromelain extract (Bromeyal™) after in vitro simulated gastrointestinal digestion.

Anti-inflammatory properties of a proprietary bromelain extract (Bromeyal™) after in vitro simulated gastrointestinal digestion.

Journal: International journal of immunopathology and pharmacology

Published: August 13, 2021

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

Journal: Haematologica

Published: August 11, 2021

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.

Journal: Molecular genetics & genomic medicine

Published: June 07, 2021

Showing 1-12 of 31

Last Updated: 09/26/2026