Francisco E. Baralle

AREA Science Park
Trieste, 34149, Italy

Last Updated: 09/26/2026

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Found 48 publications

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Ischemia/Reperfusion Injury and Outcomes in Liver Transplantation Assessed by Omics Technologies: Where Do We Stand?

Ischemia/Reperfusion Injury and Outcomes in Liver Transplantation Assessed by Omics Technologies: Where Do We Stand?

Journal: Transplantation

Published: August 13, 2025

Genome-wide DNA methylation and transcriptomic analysis of liver tissues subjected to early ischemia/reperfusion injury upon human liver transplantation.

Genome-wide DNA methylation and transcriptomic analysis of liver tissues subjected to early ischemia/reperfusion injury upon human liver transplantation.

Journal: Annals of hepatology

Published: February 23, 2024

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders.

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders.

Journal: Experimental & molecular medicine

Published: January 27, 2024

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.

Journal: Molecular medicine (Cambridge, Mass.)

Published: September 07, 2021

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.

Journal: American journal of medical genetics. Part A

Published: June 02, 2021

Alternative splicing and liver disease.

Alternative splicing and liver disease.

Journal: Annals of hepatology

Published: April 30, 2021

Physiological tissue-specific and age-related reduction of mouse TDP-43 levels is regulated by epigenetic modifications.

Physiological tissue-specific and age-related reduction of mouse TDP-43 levels is regulated by epigenetic modifications.

Journal: Disease models & mechanisms

Published: March 23, 2021

Thioridazine reverts the phenotype in cellular and Drosophila models of amyotrophic lateral sclerosis by enhancing TDP-43 aggregate clearance.

Thioridazine reverts the phenotype in cellular and Drosophila models of amyotrophic lateral sclerosis by enhancing TDP-43 aggregate clearance.

Journal: Neurobiology of disease

Published: December 17, 2020

RNA structure and splicing regulation.

RNA structure and splicing regulation.

Journal: Biochimica et biophysica acta. Gene regulatory mechanisms

Published: November 16, 2019

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Journal: The EMBO journal

Published: November 20, 2017

RhoGAPp190: A potential player in tbph-mediated neurodegeneration in Drosophila.

RhoGAPp190: A potential player in tbph-mediated neurodegeneration in Drosophila.

Journal: PloS one

Published: August 24, 2017

Showing 1-12 of 48

Last Updated: 09/26/2026