Lista de obras - Paula Leandro - Dominio Público Uruguay

A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity?

artículo científico publicado en 2017

Albumin-binding domain from Streptococcus zooepidemicus protein Zag as a novel strategy to improve the half-life of therapeutic proteins

artículo científico

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

artículo científico publicado en 2015

Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation

article

Dihydrolipoamide dehydrogenase, pyruvate oxidation, and acetylation-dependent mechanisms intersecting drug iatrogenesis

artículo científico publicado en 2021

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

artículo científico publicado en 2014

Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system.

artículo científico publicado en 2001

Insights into Medium-chain Acyl-CoA Dehydrogenase Structure by Molecular Dynamics Simulations

scientific article published on 08 April 2016

Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins

artículo científico publicado en 2014

Lack of Aquaporin 3 in bovine erythrocyte membranes correlates with low glycerol permeation

artículo científico publicado en 2011

Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds

artículo científico publicado en 2008

Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.

artículo científico publicado en 1995

NO* binds human cystathionine β-synthase quickly and tightly

artículo científico publicado en 2014

PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain

artículo científico publicado en 2017

Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase

artículo científico publicado en 2009

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal ⬇️

artículo científico publicado el 1 de abril de 1998

Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells

artículo científico publicado en 2013

Protein misfolding in conformational disorders: rescue of folding defects and chemical chaperoning

artículo científico publicado en 2008

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

artículo científico publicado en 2013

Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population

article

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

artículo científico publicado en 2013

S-Adenosyl-l-methionine Modulates CO and NO• Binding to the Human H2S-generating Enzyme Cystathionine β-Synthase

artículo científico publicado en 2015

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C

scientific article published on 12 October 2015

Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.

artículo científico publicado en 1993

The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

artículo científico publicado en 2000

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

artículo científico publicado en 2000

The lytic cassette of mycobacteriophage Ms6 encodes an enzyme with lipolytic activity

artículo científico publicado en 2008

Tyrosinaemia type I with normal levels of plasma tyrosine

scientific article published on 01 January 1990

Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches

artículo científico publicado en 2016

Lista de obras de Paula Leandro

A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity?

Albumin-binding domain from Streptococcus zooepidemicus protein Zag as a novel strategy to improve the half-life of therapeutic proteins

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation

Dihydrolipoamide dehydrogenase, pyruvate oxidation, and acetylation-dependent mechanisms intersecting drug iatrogenesis

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system.

Insights into Medium-chain Acyl-CoA Dehydrogenase Structure by Molecular Dynamics Simulations

Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins

Lack of Aquaporin 3 in bovine erythrocyte membranes correlates with low glycerol permeation

Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds

Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.

NO* binds human cystathionine β-synthase quickly and tightly

PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain

Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal ⬇️

Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells

Protein misfolding in conformational disorders: rescue of folding defects and chemical chaperoning

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

S-Adenosyl-l-methionine Modulates CO and NO• Binding to the Human H2S-generating Enzyme Cystathionine β-Synthase

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C

Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.

The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

The lytic cassette of mycobacteriophage Ms6 encodes an enzyme with lipolytic activity

Tyrosinaemia type I with normal levels of plasma tyrosine

Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches