List of works - Alessio Branchini

A recoded view on the F9 p.Cys178Ter pathogenic mechanism

scientific article published on 15 January 2020

Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study.

scientific article published on 14 March 2016

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

Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth

scientific article published on 30 November 2018

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

scientific article published on 10 October 2019

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 engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics

scientific article published on 01 October 2020

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

scientific article published on 24 June 2016

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation.

scientific article

Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity.

scientific article

Chronic sleep deprivation markedly reduces coagulation factor VII expression

scientific article

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity

scientific article published on 23 November 2017

Coagulation factor VII variants resistant to inhibitory antibodies

scientific article published on 07 August 2014

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

scientific article

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

scientific article published on 19 November 2018

Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the factor II 20210A allele

scientific article

Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates

scientific article published on 29 May 2019

Hard surface biocontrol in hospitals using microbial-based cleaning products

scientific article

Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation

scientific article

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition

scientific article published on 17 April 2019

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches

scientific article published on 11 December 2020

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

scientific article published on 21 June 2019

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency ⬇️

scientific article published on December 16, 2011

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

scientific article published in February 2018

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

scientific article published on 14 February 2017

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts

scientific article published on 18 April 2019

The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X.

scientific article

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

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants

scientific article published on 15 October 2019

List of works by Alessio Branchini

A recoded view on the F9 p.Cys178Ter pathogenic mechanism

Activated factor VII-antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study.

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

Akt-mediated phosphorylation of MICU1 regulates mitochondrial Ca2+ levels and tumor growth

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

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 engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation.

Characterization of the intracellular signalling capacity of natural FXa mutants with reduced pro-coagulant activity.

Chronic sleep deprivation markedly reduces coagulation factor VII expression

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity

Coagulation factor VII variants resistant to inhibitory antibodies

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

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

Factor II activity is similarly increased in patients with elevated apolipoprotein CIII and in carriers of the factor II 20210A allele

Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates

Hard surface biocontrol in hospitals using microbial-based cleaning products

Impact of a Probiotic-Based Cleaning Intervention on the Microbiota Ecosystem of the Hospital Surfaces: Focus on the Resistome Remodulation

Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches

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

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency ⬇️

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

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts

The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X.

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

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants