List of works - Jerry Vockley

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

scientific article

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

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

scientific article published on 10 October 2013

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

scientific article

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

scientific journal article

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

scientific article published on 20 January 2012

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

scientific article published on 6 March 2014

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

scientific article

Barriers to the successful treatment of liver disease by hepatocyte transplantation

scientific article

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

scientific article published on July 27, 2010

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

scientific article published on July 15, 1997

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

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

scientific article

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

scientific article

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

scientific 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

scientific article

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

scientific article published on 14 April 2014

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

scientific article published on 23 September 2003

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

scientific article published on 14 October 2004

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

scientific article published on 14 July 2005

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

scientific article published on 11 August 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 16 February 2005

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

scientific article

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

scientific journal article

Identification and characterization of new long chain acyl-CoA dehydrogenases

scientific article

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

scientific article published on 31 March 2018

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

scientific article published on September 13, 2012

Short-chain acyl-coenzyme A dehydrogenase deficiency

scientific article

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

scientific article published on 7 May 2003

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 3 January 2013

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

scientific article published on 19 March 2007

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published on 5 November 2015

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

scientific article

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

scientific article

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

scientific article

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

scientific article published on 03 February 2011

Liver transplantation for pediatric metabolic disease

scientific article published on 17 January 2014

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

scientific article published on July 28, 1995

Host conditioning and rejection monitoring in hepatocyte transplantation in humans

scientific article published on 24 December 2016

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

scientific article published on 01 April 2001

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

List of works by Jerry Vockley

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

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

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

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

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

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

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

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

Barriers to the successful treatment of liver disease by hepatocyte transplantation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

Identification and characterization of new long chain acyl-CoA dehydrogenases

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

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

Short-chain acyl-coenzyme A dehydrogenase deficiency

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

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

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

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

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

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

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

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

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.

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

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

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

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

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

Liver transplantation for pediatric metabolic disease

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

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

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