Lucia D'antona

Catanzaro, 88100, Italy

Last Updated: 09/26/2026

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Found 31 publications

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Journal: Genes
Published: May 07, 2026

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Journal: Genes
Published: July 08, 2025

Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.

Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.

Journal: Genes
Published: May 23, 2025

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Journal: Current issues in molecular biology
Published: October 21, 2024

Early investigation of a novel SI306 theranostic prodrug for glioblastoma treatment.

Early investigation of a novel SI306 theranostic prodrug for glioblastoma treatment.

Journal: Drug development research
Published: November 08, 2023

Hematologic Neoplasms Associated with Down Syndrome: Cellular and Molecular Heterogeneity of the Diseases.

Hematologic Neoplasms Associated with Down Syndrome: Cellular and Molecular Heterogeneity of the Diseases.

Journal: International journal of molecular sciences
Published: September 22, 2023

RANBP1, a member of the nuclear-cytoplasmic trafficking-regulator complex, is the terminal-striking point of the SGK1-dependent Th17+ pathological differentiation.

RANBP1, a member of the nuclear-cytoplasmic trafficking-regulator complex, is the terminal-striking point of the SGK1-dependent Th17+ pathological differentiation.

Journal: Frontiers in immunology
Published: April 28, 2023

Kinase Inhibitors in Genetic Diseases.

Kinase Inhibitors in Genetic Diseases.

Journal: International journal of molecular sciences
Published: January 13, 2023

Inhibition of serum- and glucocorticoid-induced kinase 1 ameliorates hydrocephalus in preclinical models.

Inhibition of serum- and glucocorticoid-induced kinase 1 ameliorates hydrocephalus in preclinical models.

Journal: Fluids and barriers of the CNS
Published: November 22, 2022

RANBP1 (RAN Binding Protein 1): The Missing Genetic Piece in Cancer Pathophysiology and Other Complex Diseases.

RANBP1 (RAN Binding Protein 1): The Missing Genetic Piece in Cancer Pathophysiology and Other Complex Diseases.

Journal: Cancers
Published: November 17, 2022

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.

Journal: Genes
Published: October 26, 2022

Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.

Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.

Journal: Cancers
Published: July 01, 2022
Showing 1-12 of 31

Last Updated: 09/26/2026