List of works - Dario Balestra

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

scientific article published on 20 March 2020

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

scientific article published on 09 March 2012

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency

scientific article published on 19 November 2020

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

scientific article published on 4 October 2016

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

scientific article published on February 2014

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

scientific article

C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients

scientific article published on 26 June 2019

Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs

scientific article published on 19 November 2018

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

scientific article

Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death

scientific article

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

scientific article

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

scientific article published on 21 June 2019

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

scientific article published on 04 July 2019

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

scientific article published on 10 June 2015

Rescue of coagulation factor VII function by the U1+5A snRNA.

scientific article published on 22 April 2009

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

scientific article published in February 2018

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy ⬇️

scientific article published on 24 August 2019

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies

scientific article published on 09 November 2018

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation

scientific article published on 09 August 2018

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction

scientific article published in March 2018

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

scientific article published on 21 December 2007

List of works by Dario Balestra

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients

Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

Rescue of coagulation factor VII function by the U1+5A snRNA.

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy ⬇️

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency