Lista de obras - Jerry Vockley - Dominio Público Uruguay

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

artículo científico publicado en 2004

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

artículo científico publicado en 2007

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome

artículo científico publicado en 2003

ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice

artículo científico publicado en 2020

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.

artículo científico publicado en 2015

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

scientific article published on 01 April 2001

Advances and challenges in the treatment of branched‐chain amino/keto acid metabolic defects ⬇️

artículo científico publicado el 3 de febrero de 2011

Alterations in c-Myc phenotypes resulting from dynamin-related protein 1 (Drp1)-mediated mitochondrial fission.

artículo científico publicado en 2013

Altered DNA methylation in PAH deficient phenylketonuria.

artículo científico publicado en 2015

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

artículo científico publicado en 2013

Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding.

artículo científico publicado en 2001

Barriers to the successful treatment of liver disease by hepatocyte transplantation

artículo científico publicado en 2010

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.

artículo científico publicado en 2005

Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.

artículo científico publicado en 2008

Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice.

artículo científico publicado en 2010

Carnitine.

artículo científico publicado en 2014

Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency

artículo científico publicado en 1995

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia

artículo científico publicado en 1998

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

artículo científico publicado en 2010

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

artículo científico publicado en 2012

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Cloning of a gene for an acyl-CoA dehydrogenase from Pisum sativum L. and purification and characterization of its product as an isovaleryl-CoA dehydrogenase

artículo científico publicado en 2000

Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs.

artículo científico publicado en 2001

Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.

artículo científico publicado en 2010

Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice

artículo científico publicado en 2014

Convergent evolution of a 2-methylbutyryl-CoA dehydrogenase from isovaleryl-CoA dehydrogenase in Solanum tuberosum

artículo científico publicado en 2004

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

artículo científico publicado en 2009

Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events

artículo científico publicado en 2007

Defects of mitochondrial beta-oxidation: a growing group of disorders.

artículo científico publicado en 2002

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

artículo científico publicado en 2007

Development of clinical guidelines for inborn errors of metabolism: commentary.

artículo científico

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

artículo científico publicado en 2007

Effects of Triheptanoin (UX007) in Patients with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD): Results from an Open-Label, Long-Term Extension Study

artículo científico publicado en 2020

Effects of diet and physical activity interventions on weight loss and cardiometabolic risk factors in severely obese adults: a randomized trial

artículo científico publicado en 2010

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

artículo científico publicado en 2009

Epitopes of human intestinal alkaline phosphatases, defined by monoclonal antibodies

scientific article published on 01 September 1984

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

artículo científico publicado en 2008

Evidence for Physical Association of Mitochondrial Fatty Acid Oxidation and Oxidative Phosphorylation Complexes ⬇️

artículo científico publicado el 27 de julio de 2010

Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate ⬇️

artículo científico publicado el 18 de octubre de 2012

Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

artículo científico publicado en 2007

Follistatin-like protein 1 enhances NLRP3 inflammasome-mediated IL-1β secretion from monocytes and macrophages

artículo científico publicado en 2014

Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism

artículo científico publicado en 2005

GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour ⬇️

artículo científico publicado el 9 de junio de 2011

Glutaric aciduria type 2 and newborn screening: commentary

artículo científico publicado en 2007

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation

artículo científico publicado en 2012

High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli ⬇️

artículo científico publicado el 28 de julio de 1995

Host conditioning and rejection monitoring in hepatocyte transplantation in humans

artículo científico publicado en 2016

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids

artículo científico publicado en 2005

Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA

scientific article published on 01 February 1998

Identification and characterization of new long chain acyl-CoA dehydrogenases

artículo científico publicado en 2011

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

scientific journal article

Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis

scientific article published on 01 January 1998

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.

artículo científico publicado en 2006

In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.

artículo científico publicado en 2005

Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity.

scientific article published on 28 January 2010

Introduction: Neurodevelopmental issues in inborn errors of metabolism

artículo científico publicado en 2013

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.

artículo científico publicado en 2017

Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family

artículo científico publicado en 1994

Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands

artículo científico publicado en 2014

Leaky beta-oxidation of a trans-fatty acid: incomplete beta-oxidation of elaidic acid is due to the accumulation of 5-trans-tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria

artículo científico publicado en 2004

Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience

artículo científico publicado en 2011

Liver transplantation for pediatric metabolic disease

artículo científico publicado en 2014

Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction

artículo científico publicado en 2014

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

artículo científico publicado en 2015

Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle

artículo científico publicado en 2010

Mammalian electron transferring flavoprotein.flavoprotein dehydrogenase complexes observed by microelectrospray ionization-mass spectrometry and surface plasmon resonance

artículo científico publicado en 2004

Mechanism-based inactivation of human glutaryl-CoA dehydrogenase by 2-pentynoyl-CoA: rationale for enhanced reactivity.

artículo científico publicado en 2003

Mechanism-based inhibitor discrimination in the acyl-CoA dehydrogenases

scientific article published on 01 June 1997

Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice

artículo científico publicado en 2005

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases

scientific article published on 05 October 2008

Metabolomic Profiling of Amino Acids and β-Cell Function Relative to Insulin Sensitivity in Youth ⬇️

artículo científico publicado el 13 de septiembre de 2012

Metabolomic profiling of fatty acid and amino acid metabolism in youth with obesity and type 2 diabetes: evidence for enhanced mitochondrial oxidation.

artículo científico publicado en 2012

Microelectrospray ionization analysis of noncovalent interactions within the electron transferring flavoprotein

scientific article published on 01 March 2001

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

artículo científico publicado en 2003

Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex

scientific article published on 24 June 2019

Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase

artículo científico publicado en 2000

Mitochondrial structure, function and dynamics are temporally controlled by c-Myc

artículo científico publicado en 2012

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2013

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.

artículo científico publicado en 2008

Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R.

artículo científico publicado en 2008

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

artículo científico publicado en 2011

Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention

artículo científico publicado en 2013

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening

artículo científico publicado en 2013

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

artículo científico publicado en 2010

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

artículo científico publicado en 2011

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

artículo científico publicado en 2016

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

artículo científico publicado en 2016

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

artículo científico publicado en 2018

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

artículo científico

Phenylketonuria Scientific Review Conference: state of the science and future research needs

artículo científico publicado en 2014

Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine

artículo científico publicado en 2007

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin ⬇️

artículo científico publicado el 15 de abril de 2013

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

artículo científico publicado en 2003

Proteomic analysis of hyperdynamic mouse hearts with enhanced sarcoplasmic reticulum calcium cycling

artículo científico publicado en 2004

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme

artículo científico publicado en 2002

Purification of monoclonal antibodies to human alkaline phosphatases by antigen-immunoaffinity chromatography: comparisons of their molar binding values

scientific article published on 01 November 1984

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

artículo científico publicado en 2003

Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice

artículo científico publicado en 2008

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

artículo científico publicado en 2003

Redesigning the active-site of an acyl-CoA dehydrogenase: new evidence supporting a one-base mechanism ⬇️

artículo científico publicado el 1 de diciembre de 1997

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

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years

artículo científico publicado en 2017

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

artículo científico publicado en 2020

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry

artículo científico publicado en 2014

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

artículo científico publicado en 2015

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

artículo científico publicado en 2008

Short-chain acyl-coenzyme A dehydrogenase deficiency

artículo científico publicado en 2008

Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

artículo científico publicado en 2000

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

artículo científico publicado en 2014

Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site

scientific article published on 11 October 2013

Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase

artículo científico publicado en 2008

Structure of Human Isovaleryl-CoA Dehydrogenase at 2.6 Å Resolution: Structural Basis for Substrate Specificity, ⬇️

artículo científico publicado el 15 de julio de 1997

Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases

artículo científico publicado en 2004

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation

artículo científico publicado en 2005

Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation

scientific journal article

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

artículo científico publicado en 2008

The role of sterol-C4-methyl oxidase in epidermal biology

artículo científico publicado en 2013

Therapies in inborn errors of oxidative metabolism.

artículo científico publicado en 2012

Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability

artículo científico publicado en 2004

Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding

artículo científico publicado en 2005

Thoroughly modern medicine

artículo científico publicado en 2011

Trading places: liver transplantation as a treatment, not a cure, for metabolic liver disease

artículo científico publicado en 2011

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment

artículo científico publicado en 2017

Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men.

artículo científico publicado en 2010

X-linked creatine transporter deficiency presenting as a mitochondrial disorder

artículo científico publicado en 2010

c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate

artículo científico publicado en 2014

Lista de obras de Jerry Vockley

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome

ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

Advances and challenges in the treatment of branched‐chain amino/keto acid metabolic defects ⬇️

Alterations in c-Myc phenotypes resulting from dynamin-related protein 1 (Drp1)-mediated mitochondrial fission.

Altered DNA methylation in PAH deficient phenylketonuria.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding.

Barriers to the successful treatment of liver disease by hepatocyte transplantation

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.

Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.

Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice.

Carnitine.

Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Cloning of a gene for an acyl-CoA dehydrogenase from Pisum sativum L. and purification and characterization of its product as an isovaleryl-CoA dehydrogenase

Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs.

Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.

Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice

Convergent evolution of a 2-methylbutyryl-CoA dehydrogenase from isovaleryl-CoA dehydrogenase in Solanum tuberosum

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events

Defects of mitochondrial beta-oxidation: a growing group of disorders.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Development of clinical guidelines for inborn errors of metabolism: commentary.

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

Effects of Triheptanoin (UX007) in Patients with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD): Results from an Open-Label, Long-Term Extension Study

Effects of diet and physical activity interventions on weight loss and cardiometabolic risk factors in severely obese adults: a randomized trial

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

Epitopes of human intestinal alkaline phosphatases, defined by monoclonal antibodies

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

Evidence for Physical Association of Mitochondrial Fatty Acid Oxidation and Oxidative Phosphorylation Complexes ⬇️

Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate ⬇️

Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

Follistatin-like protein 1 enhances NLRP3 inflammasome-mediated IL-1β secretion from monocytes and macrophages

Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism

GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour ⬇️

Glutaric aciduria type 2 and newborn screening: commentary

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation

High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli ⬇️

Host conditioning and rejection monitoring in hepatocyte transplantation in humans

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids

Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA

Identification and characterization of new long chain acyl-CoA dehydrogenases

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.

In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.

Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity.

Introduction: Neurodevelopmental issues in inborn errors of metabolism

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.

Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family

Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands

Leaky beta-oxidation of a trans-fatty acid: incomplete beta-oxidation of elaidic acid is due to the accumulation of 5-trans-tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria

Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience

Liver transplantation for pediatric metabolic disease

Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle

Mammalian electron transferring flavoprotein.flavoprotein dehydrogenase complexes observed by microelectrospray ionization-mass spectrometry and surface plasmon resonance

Mechanism-based inactivation of human glutaryl-CoA dehydrogenase by 2-pentynoyl-CoA: rationale for enhanced reactivity.

Mechanism-based inhibitor discrimination in the acyl-CoA dehydrogenases

Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases

Metabolomic Profiling of Amino Acids and β-Cell Function Relative to Insulin Sensitivity in Youth ⬇️

Metabolomic profiling of fatty acid and amino acid metabolism in youth with obesity and type 2 diabetes: evidence for enhanced mitochondrial oxidation.

Microelectrospray ionization analysis of noncovalent interactions within the electron transferring flavoprotein

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex

Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase

Mitochondrial structure, function and dynamics are temporally controlled by c-Myc