Lista de obras -

3-Methylglutaconic aciduria type I is caused by mutations in AUH

scientific journal article

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

scientific article published on 03 July 2019

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

artículo científico publicado en 2016

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

artículo científico publicado en 2013

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model

artículo científico publicado en 2015

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease

artículo científico publicado en 2016

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells

article published in 2019

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

artículo científico publicado en 2013

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

artículo científico publicado en 2011

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

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation

artículo científico publicado en 2008

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

artículo científico publicado en 2006

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

artículo científico publicado en 2006

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

artículo científico publicado en 2007

Demonstration and characterization of phosphate transport in mammalian peroxisomes

artículo científico publicado en 2005

Demonstration of bile acid transport across the mammalian peroxisomal membrane

artículo científico publicado en 2007

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation ⬇️

artículo científico publicado el 8 de diciembre de 2010

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

artículo científico publicado en 2015

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization

artículo científico publicado en 2006

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models

artículo científico publicado en 2014

Identification of novel mutations in classical galactosemia

artículo científico publicado en 2005

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2005

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

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients ⬇️

artículo científico publicado el 1 de enero de 2002

Metabolite transport across the peroxisomal membrane

artículo científico publicado en 2007

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

artículo científico publicado en 2019

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

artículo científico publicado en 2006

N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids ⬇️

artículo científico publicado en 2015

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

artículo científico publicado el 31 de marzo de 2012

Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae ⬇️

artículo científico publicado el 9 de abril de 2012

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

artículo científico publicado en 2013

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

artículo científico publicado en 2012

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

artículo científico publicado en 2017

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

Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP

artículo científico publicado en 2024

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

artículo científico publicado en 2013

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact.

artículo científico publicado en 2018

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

artículo científico publicado el 29 de octubre de 2012

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

scientific article published on 20 May 2010

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

artículo científico publicado en 2008

The peroxisomal lumen in Saccharomyces cerevisiae is alkaline

artículo científico publicado en 2004

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

artículo científico publicado en 2005

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

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

Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria

artículo científico publicado en 2004

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase

artículo científico publicado en 2005

Lista de obras de

3-Methylglutaconic aciduria type I is caused by mutations in AUH

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

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

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Demonstration and characterization of phosphate transport in mammalian peroxisomes

Demonstration of bile acid transport across the mammalian peroxisomal membrane

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation ⬇️

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models

Identification of novel mutations in classical galactosemia

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

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

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients ⬇️

Metabolite transport across the peroxisomal membrane

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids ⬇️

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae ⬇️

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

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

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

Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP

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

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact.

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

The peroxisomal lumen in Saccharomyces cerevisiae is alkaline

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

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

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.

Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase