Jerry Vockley Selected Research

Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)

5/2014	Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.
9/2010	Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice.
8/2008	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.
11/2003	Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.
8/2003	Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

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Jerry Vockley Research Topics

Disease

21	Phenylketonurias (Phenylketonuria) 06/2022 - 05/2009
11	Rhabdomyolysis 01/2022 - 08/2006
10	VLCAD deficiency 01/2022 - 08/2006
9	Metabolic Diseases (Metabolic Disease) 01/2022 - 01/2013
8	Maple Syrup Urine Disease 06/2022 - 01/2012
8	Cardiomyopathies (Cardiomyopathy) 01/2022 - 08/2006
8	Liver Diseases (Liver Disease) 12/2021 - 10/2010
7	Inborn Urea Cycle Disorders 09/2019 - 12/2012
7	Short chain Acyl CoA dehydrogenase deficiency 05/2014 - 09/2002
6	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022 - 09/2011
6	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 08/2010
6	isovaleric Acidemia 09/2021 - 12/2004
5	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 08/2006
4	Methylmalonic acidemia 01/2022 - 01/2012
4	Propionic Acidemia 01/2022 - 01/2012
4	Inborn Genetic Diseases (Disease, Hereditary) 12/2021 - 01/2020
4	Muscular Diseases (Myopathy) 10/2020 - 03/2002
4	Insulin Resistance 01/2020 - 09/2010
4	Type 2 Diabetes Mellitus (MODY) 01/2018 - 10/2010
4	2-Methylbutyryl-CoA Dehydrogenase Deficiency 09/2013 - 07/2003
4	Obesity 03/2012 - 09/2005
3	Metabolic Bone Diseases (Osteopenia) 01/2021 - 01/2013
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2020 - 01/2018
3	Seizures (Absence Seizure) 01/2019 - 08/2003
3	Hypophosphatasia 01/2019 - 01/2013
3	Treatment-Resistant Depressive Disorder 01/2017 - 01/2011
3	Isobutyryl-CoA dehydrogenase deficiency 01/2012 - 08/2003
2	Trifunctional Protein Deficiency With Myopathy And Neuropathy 09/2022 - 01/2021
2	Inflammation (Inflammations) 01/2022 - 01/2019
2	Pneumonia (Pneumonitis) 01/2022 - 03/2007
2	Leukemia 07/2021 - 01/2021
2	Rare Diseases (Rare Disease) 01/2021 - 01/2016
2	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 10/2020 - 12/2010
2	Fatigue 01/2020 - 01/2018
2	Hypersensitivity (Allergy) 01/2020 - 01/2018
2	progressive familial intrahepatic 1 Cholestasis 11/2019 - 03/2016
2	Intellectual Disability (Idiocy) 04/2019 - 01/2019
2	Neoplasms (Cancer) 09/2014 - 09/2005
2	Medium chain acyl CoA dehydrogenase deficiency 12/2012 - 08/2005
2	Muscle Hypotonia (Hypotonia) 02/2008 - 03/2002
1	B-Cell Lymphoma (Lymphoma, B Cell) 02/2022
1	Lymphoma (Lymphomas) 02/2022
1	Urinary Tract Infections (Urinary Tract Infection) 01/2022
1	Hyperferritinemia 01/2022

Drug/Important Bio-Agent (IBA)

23	Fatty Acids (Saturated Fatty Acids)IBA 09/2022 - 11/2003
16	EnzymesIBA 01/2022 - 05/2006
15	Phenylalanine (L-Phenylalanine)FDA Link 01/2022 - 05/2009
13	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2022 - 02/2014
12	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2003
8	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2022 - 08/2006
8	Amino Acids FDA Link 10/2020 - 03/2012
6	sapropterin (tetrahydrobiopterin)FDA Link 01/2017 - 05/2009
5	Tyrosine (L-Tyrosine)FDA Link 01/2022 - 07/2014
5	Carnitine (L-Carnitine)FDA LinkGeneric 10/2020 - 08/2003
5	pegvaliaseIBA 01/2020 - 01/2018
5	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 05/2014 - 08/2003
4	AcidsIBA 01/2022 - 08/2003
4	Pharmaceutical PreparationsIBA 01/2021 - 05/2009
4	acylcarnitineIBA 10/2020 - 08/2003
4	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2020 - 08/2005
4	glycerol phenylbutyrateIBA 01/2019 - 09/2015
4	Leucine (L-Leucine)FDA Link 09/2013 - 12/2004
3	triheptanoinIBA 01/2022 - 09/2015
3	Isovaleryl-CoA Dehydrogenase (Isovaleryl-Coenzyme A Dehydrogenase)IBA 09/2021 - 05/2006
3	LipidsIBA 01/2019 - 03/2002
3	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/2019 - 01/2013
3	2-methylacyl-CoA dehydrogenaseIBA 08/2010 - 07/2003
3	butyrylcarnitineIBA 12/2008 - 08/2003
2	3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) (Alpha-Keto Acid Dehydrogenase)IBA 06/2022 - 01/2016
2	Biomarkers (Surrogate Marker)IBA 01/2022 - 11/2017
2	CeramidesIBA 01/2021 - 01/2019
2	CytokinesIBA 01/2021 - 01/2019
2	Valine (L-Valine)FDA Link 01/2020 - 02/2007
2	arginyl- 2,'6'- dimethyltyrosyl- lysyl- phenylalaninamideIBA 01/2020 - 01/2018
2	Urea (Carbamide)FDA LinkGeneric 09/2019 - 07/2015
2	Branched-Chain Amino AcidsIBA 07/2019 - 01/2016
2	Dietary ProteinsIBA 11/2018 - 07/2015
2	Phenylalanine Ammonia-LyaseIBA 01/2018 - 07/2014
2	4-phenylbutyric acid (Buphenyl)FDA Link 03/2016 - 12/2012
2	DNA (Deoxyribonucleic Acid)IBA 01/2016 - 05/2013
2	Mitochondrial DNA (mtDNA)IBA 01/2016 - 05/2003
2	NitrogenIBA 09/2015 - 07/2015
2	AmmoniaIBA 07/2015 - 12/2012
2	Isoleucine (L-Isoleucine)FDA Link 09/2013 - 07/2003
2	Oxidoreductases (Dehydrogenase)IBA 09/2013 - 10/2008
2	Coenzyme A (CoA)IBA 09/2013 - 10/2008
2	Insulin (Novolin)FDA Link 11/2012 - 09/2010
2	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 01/2011 - 01/2011
2	5-Hydroxytryptophan (5 Hydroxytryptophan)IBA 01/2011 - 01/2011
2	ethylmalonic acid (ethylmalonate)IBA 12/2008 - 09/2002
1	Mitochondrial Trifunctional ProteinIBA 09/2022
1	Chimeric Antigen ReceptorsIBA 02/2022
1	SirtuinsIBA 01/2022

Therapy/Procedure

13	Liver Transplantation 06/2022 - 06/2011
13	Therapeutics 02/2022 - 08/2006
5	Transplantation 01/2021 - 10/2010
2	Heart Transplantation (Grafting, Heart) 01/2021 - 03/2011
2	Aftercare (After-Treatment) 10/2020 - 09/2015
2	Precision Medicine 09/2019 - 09/2011
2	Drug Therapy (Chemotherapy) 02/2014 - 10/2010