Lista de obras - Isabel Tavares de Almeida

3-, 6- and 7-Hydroxyoctanoic Acids are Metabolites of Medium-Chain Triglycerides and Excreted in Urine as Glucuronides

artículo científico publicado en 1996

5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine

artículo científico publicado en 2003

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

artículo científico publicado en 2013

Aromatic amino acid metabolites as potential protein binding inhibitors in human uremic plasma.

artículo científico publicado en 1985

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency

scientific article published on 24 March 2012

Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines

artículo científico publicado en 2013

Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling

artículo científico publicado en 2010

Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates. Evidence for a reverse carnitine cycle in mitochondria

scientific article published on 01 May 1998

Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.

artículo científico publicado en 2001

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

article

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

scientific journal article

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

artículo científico publicado en 2016

Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

artículo científico publicado en 2016

Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues

artículo científico publicado en 2012

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

artículo científico publicado en 2015

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells

artículo científico publicado en 2018

Functional correction by antisense therapy of a splicing mutation in the GALT gene

artículo científico publicado en 2014

Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods

artículo científico publicado en 2010

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia

artículo científico publicado en 2013

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

artículo científico publicado en 2001

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

artículo científico publicado en 2005

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview

artículo científico publicado en 2006

Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity

artículo científico publicado en 2009

Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease

artículo científico publicado en 2003

Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A β-oxidation intermediates

artículo científico publicado en 2006

Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression

artículo científico publicado en 2014

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

artículo científico publicado en 2009

Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Molecular basis and clinical presentation of classic galactosemia in a Croatian population

artículo científico publicado en 2017

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

artículo científico publicado en 1995

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia

artículo científico publicado en 2009

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

artículo científico publicado en 2009

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

artículo científico publicado en 2013

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis

artículo científico publicado en 2012

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

artículo científico publicado en 2008

Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes

artículo científico publicado en 2008

Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology

artículo científico publicado en 2002

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

artículo científico publicado en 1999

Quantitative analysis of urinary acylglycines for the diagnosis of β-oxidation defects using GC-NCI-MS

artículo científico publicado en 2000

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

Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

artículo científico publicado en 2011

S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation

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

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

artículo científico publicado en 2013

Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.

artículo científico publicado en 2001

The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations

artículo científico publicado en 2010

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

artículo científico publicado en 2000

Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics

Valproate induces in vitro accumulation of long-chain fatty acylcarnitines

artículo científico publicado en 2001

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

artículo científico publicado en 2011

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

artículo científico publicado en 2013

Lista de obras de Isabel Tavares de Almeida

3-, 6- and 7-Hydroxyoctanoic Acids are Metabolites of Medium-Chain Triglycerides and Excreted in Urine as Glucuronides

5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

Aromatic amino acid metabolites as potential protein binding inhibitors in human uremic plasma.

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency

Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines

Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling

Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates. Evidence for a reverse carnitine cycle in mitochondria

Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.

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

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells

Functional correction by antisense therapy of a splicing mutation in the GALT gene

Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia

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

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview

Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity

Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease

Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A β-oxidation intermediates

Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.

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

Molecular basis and clinical presentation of classic galactosemia in a Croatian population

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

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

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

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency

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

Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes

Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

Quantitative analysis of urinary acylglycines for the diagnosis of β-oxidation defects using GC-NCI-MS

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.

Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation

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

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.

The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics

Valproate induces in vitro accumulation of long-chain fatty acylcarnitines

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.