| Year |
Citation |
Score |
| 2023 |
Karunanidhi A, Basu S, Zhao XJ, D'Annibale O, Van't Land C, Vockley J, Mohsen AW. Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 140: 107689. PMID 37660571 DOI: 10.1016/j.ymgme.2023.107689 |
0.326 |
|
| 2021 |
Sklirou E, Alodaib AN, Dobrowolski SF, Mohsen AA, Vockley J. Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders. Frontiers in Genetics. 11: 598760. PMID 33584796 DOI: 10.3389/fgene.2020.598760 |
0.32 |
|
| 2021 |
Vockley J. Long-chain fatty acid oxidation disorders and current management strategies. The American Journal of Managed Care. 26: S147-S154. PMID 32840329 DOI: 10.37765/ajmc.2020.88480 |
0.3 |
|
| 2020 |
Elizondo G, Matern D, Vockley J, Harding CO, Gillingham MB. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. Molecular Genetics and Metabolism. PMID 32928639 DOI: 10.1016/J.Ymgme.2020.09.001 |
0.343 |
|
| 2020 |
Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J. Effects of Triheptanoin (UX007) in Patients with Long-chain Fatty Acid Oxidation Disorders (LC-FAOD): Results from an Open-Label, Long-Term Extension Study. Journal of Inherited Metabolic Disease. PMID 32885845 DOI: 10.1002/Jimd.12313 |
0.38 |
|
| 2020 |
Glänzel NM, Grings M, da Rosa-Junior NT, de Carvalho LMC, Mohsen AW, Wipf P, Wajner M, Vockley J, Leipnitz G. The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer and cell death signaling in striatum of rats. Journal of Inherited Metabolic Disease. PMID 32882059 DOI: 10.1002/Jimd.12310 |
0.324 |
|
| 2020 |
Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. American Journal of Medical Genetics. Part A. PMID 32804429 DOI: 10.1002/Ajmg.A.61786 |
0.433 |
|
| 2020 |
Dobrowolski SF, Alodaib A, Karunanidhi A, Basu S, Holecko M, Lichter-Konecki U, Pappan KL, Vockley J. Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. Molecular Genetics and Metabolism. PMID 32151545 DOI: 10.1016/J.Ymgme.2020.01.005 |
0.394 |
|
| 2019 |
Levy H, Lamppu D, Anastosoaie V, Baker JL, DiBona K, Hawthorne S, Lindenberger J, Kinch D, Seymour A, McIlduff M, Watling S, Vockley J. 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics. Molecular Genetics and Metabolism. PMID 31883647 DOI: 10.1016/J.Ymgme.2019.12.007 |
0.332 |
|
| 2019 |
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, ... ... Vockley J, et al. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31761904 DOI: 10.1038/S41436-019-0698-4 |
0.33 |
|
| 2019 |
Ghaloul-Gonzalez L, Mohsen AW, Karunanidhi A, Seminotti B, Chong H, Madan-Khetarpal S, Sebastian J, Vockley CW, Reyes-Múgica M, Vander Lugt MT, Vockley J. Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation. Scientific Reports. 9: 15739. PMID 31673062 DOI: 10.1038/S41598-019-51922-2 |
0.354 |
|
| 2019 |
Grings M, Seminotti B, Karunanidhi A, Ghaloul-Gonzalez L, Mohsen AW, Wipf P, Palmfeldt J, Vockley J, Leipnitz G. ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. Scientific Reports. 9: 12651. PMID 31477743 DOI: 10.1038/S41598-019-49014-2 |
0.377 |
|
| 2019 |
Vockley J, Dobrowolski SF, Arnold GL, Guerrero RB, Derks TGJ, Weinstein DA. Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment. Molecular Genetics and Metabolism. PMID 31358473 DOI: 10.1016/J.Ymgme.2019.07.011 |
0.368 |
|
| 2019 |
Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, ... Vockley J, et al. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Molecular Genetics and Metabolism. PMID 31326288 DOI: 10.1016/J.Ymgme.2019.07.004 |
0.307 |
|
| 2019 |
Wang Y, Palmfeldt J, Gregersen N, Makhov AM, Conway JF, Wang M, McCalley SP, Basu S, Alharbi H, St Croix C, Calderon MJ, Watkins S, Vockley J. Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex. The Journal of Biological Chemistry. PMID 31235473 DOI: 10.1074/Jbc.Ra119.008680 |
0.376 |
|
| 2019 |
Zhang Y, Mohsen AW, Kochersperger C, Solo K, Schmidt AV, Vockley J, Goetzman ES. An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein. Analytical Biochemistry. 581: 113332. PMID 31194945 DOI: 10.1016/J.Ab.2019.06.003 |
0.343 |
|
| 2019 |
McCalley S, Pirman D, Clasquin M, Johnson K, Jin S, Vockley J. Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias. Molecular Genetics and Metabolism. PMID 31133529 DOI: 10.1016/J.Ymgme.2019.05.008 |
0.428 |
|
| 2019 |
Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo. Biochimica Et Biophysica Acta. Molecular Basis of Disease. PMID 31075491 DOI: 10.1016/J.Bbadis.2019.05.002 |
0.366 |
|
| 2019 |
Polyzos AA, Lee DY, Datta R, Hauser M, Budworth H, Holt A, Mihalik S, Goldschmidt P, Frankel K, Trego K, Bennett MJ, Vockley J, Xu K, Gratton E, McMurray CT. Metabolic Reprogramming in Astrocytes Distinguishes Region-Specific Neuronal Susceptibility in Huntington Mice. Cell Metabolism. PMID 30930170 DOI: 10.1016/J.Cmet.2019.03.004 |
0.309 |
|
| 2019 |
McCoin CS, Gillingham MB, Knotts TA, Vockley J, Ono-Moore KD, Blackburn ML, Norman JE, Adams SH. Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders. Physiological Reports. 7: e14037. PMID 30912279 DOI: 10.14814/Phy2.14037 |
0.357 |
|
| 2019 |
Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot B, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P. Pyruvate carboxylase deficiency type A and type C: characterization of 5 novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Human Mutation. PMID 30870574 DOI: 10.1002/Humu.23742 |
0.312 |
|
| 2019 |
Lichter-Konecki U, Vockley J. Phenylketonuria: Current Treatments and Future Developments. Drugs. 79: 495-500. PMID 30864096 DOI: 10.1007/S40265-019-01079-Z |
0.335 |
|
| 2019 |
Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, ... ... Vockley J, et al. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Journal of Medical Genetics. PMID 30683676 DOI: 10.1136/Jmedgenet-2018-105800 |
0.326 |
|
| 2019 |
Tcheng M, Roma A, Ahmed N, Smith R, Jayanth P, Minden MD, Hurren R, Schimmer AD, Bozzo G, Hess D, Hope K, Rea K, Akhtar TA, Mohsen A, Vockley J, et al. Inhibiting Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Induces Selective Leukemia Cell Death Blood. 134: 3922-3922. DOI: 10.1182/Blood-2019-122262 |
0.397 |
|
| 2018 |
Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, et al. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30546086 DOI: 10.1038/S41436-018-0403-Z |
0.339 |
|
| 2018 |
Seminotti B, Leipnitz G, Karunanidhi A, Kochersperger C, Roginskaya VY, Basu S, Wang Y, Wipf P, Van Houten B, Mohsen AW, Vockley J. Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers. Human Molecular Genetics. PMID 30445591 DOI: 10.1093/Hmg/Ddy403 |
0.401 |
|
| 2018 |
Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders. Molecular Genetics and Metabolism. PMID 30217721 DOI: 10.1016/J.Ymgme.2018.09.001 |
0.345 |
|
| 2018 |
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, ... ... Vockley J, et al. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet Journal of Rare Diseases. 13: 120. PMID 30025539 DOI: 10.1186/S13023-018-0784-8 |
0.365 |
|
| 2018 |
van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM. Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12. Human Mutation. PMID 29691939 DOI: 10.1002/Humu.23538 |
0.33 |
|
| 2018 |
Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, et al. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Molecular Genetics and Metabolism. PMID 29653686 DOI: 10.1016/J.Ymgme.2018.03.006 |
0.342 |
|
| 2018 |
El-Gharbawy A, Vockley J. Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System. Pediatric Clinics of North America. 65: 317-335. PMID 29502916 DOI: 10.1016/J.Pcl.2017.11.006 |
0.345 |
|
| 2018 |
Leipnitz G, Mohsen AW, Karunanidhi A, Seminotti B, Roginskaya VY, Markantone DM, Grings M, Mihalik SJ, Wipf P, Van Houten B, Vockley J. Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. Scientific Reports. 8: 1165. PMID 29348607 DOI: 10.1038/S41598-018-19543-3 |
0.361 |
|
| 2018 |
Critelli K, McKiernan P, Vockley J, Mazariegos G, Squires RH, Soltys K, Squires JE. Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. Liver Transplantation. 24: 1260-1270. DOI: 10.1002/Lt.25304 |
0.326 |
|
| 2017 |
Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, ... Vockley J, et al. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. Journal of Inherited Metabolic Disease. PMID 28871440 DOI: 10.1007/S10545-017-0085-8 |
0.366 |
|
| 2017 |
Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, et al. UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Molecular Genetics and Metabolism. PMID 28189603 DOI: 10.1016/J.Ymgme.2017.02.005 |
0.383 |
|
| 2017 |
Bloom K, Mohsen AW, Karunanidhi A, El Demellawy D, Reyes-Múgica M, Wang Y, Ghaloul-Gonzalez L, Otsubo C, Tobita K, Muzumdar R, Gong Z, Tas E, Basu S, Chen J, Bennett M, ... ... Vockley J, et al. Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus. Journal of Inherited Metabolic Disease. PMID 28120165 DOI: 10.1007/S10545-017-0013-Y |
0.343 |
|
| 2017 |
Goldstein A, Vockley J. Clinical trials examining treatments for inborn errors of amino acid metabolism Expert Opinion On Orphan Drugs. 5: 153-164. DOI: 10.1080/21678707.2017.1275565 |
0.334 |
|
| 2016 |
Wang W, Palmfeldt J, Mohsen AW, Gregersen N, Vockley J. Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice. Biochemistry and Biophysics Reports. 8: 333-339. PMID 28955973 DOI: 10.1016/J.Bbrep.2016.08.014 |
0.366 |
|
| 2016 |
Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, ... ... Vockley J, et al. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Molecular Genetics and Metabolism. PMID 27665271 DOI: 10.1016/J.Ymgme.2016.09.002 |
0.319 |
|
| 2016 |
Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Molecular Genetics and Metabolism. PMID 27477829 DOI: 10.1016/J.Ymgme.2016.07.002 |
0.346 |
|
| 2016 |
S Sonnet D, N O'Leary M, A Gutierrez M, M Nguyen S, Mateen S, Hsu Y, P Mitchell K, J Lopez A, Vockley J, K Kennedy B, Ramanathan A. Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD. Scientific Reports. 6: 28775. PMID 27373929 DOI: 10.1038/Srep28775 |
0.371 |
|
| 2016 |
Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. Mitochondrial respiratory chain disorders in the Old Order Amish population. Molecular Genetics and Metabolism. 118: 296-303. PMID 27344355 DOI: 10.1016/J.Ymgme.2016.06.005 |
0.382 |
|
| 2016 |
Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Molecular Genetics and Metabolism. PMID 27209629 DOI: 10.1016/J.Ymgme.2016.05.007 |
0.359 |
|
| 2016 |
Edmunds LR, Otero PA, Sharma L, D'Souza S, Dolezal JM, David S, Lu J, Lamm L, Basantani M, Zhang P, Sipula IJ, Li L, Zeng X, Ding Y, Ding F, ... ... Vockley J, et al. Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes. Oncotarget. PMID 27105497 DOI: 10.18632/Oncotarget.8856 |
0.329 |
|
| 2016 |
Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. Molecular Genetics and Metabolism. PMID 27033733 DOI: 10.1016/J.Ymgme.2016.02.002 |
0.324 |
|
| 2016 |
McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH. Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation. Journal of Inherited Metabolic Disease. PMID 26907176 DOI: 10.1007/S10545-016-9915-3 |
0.386 |
|
| 2016 |
Shneider BL, Morris A, Vockley J. Possible Phenylacetate Hepatotoxicity During 4-Phenylbutyrate Therapy of Byler Disease. Journal of Pediatric Gastroenterology and Nutrition. 62: 424-8. PMID 26756876 DOI: 10.1097/Mpg.0000000000001082 |
0.337 |
|
| 2015 |
Edmunds LR, Sharma L, Kang A, Lu J, Vockley J, Basu S, Uppala R, Goetzman ES, Beck ME, Scott D, Prochownik EV. c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate. The Journal of Biological Chemistry. 290: 20100. PMID 26276854 DOI: 10.1074/Jbc.A114.580662 |
0.323 |
|
| 2015 |
Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E. 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. Molecular Genetics and Metabolism. 116: 53-60. PMID 26116311 DOI: 10.1016/J.Ymgme.2015.06.006 |
0.406 |
|
| 2015 |
Prabhu D, Goldstein AC, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M. ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics. Molecular Genetics and Metabolism Reports. 3: 43-46. PMID 26000237 DOI: 10.1016/J.Ymgmr.2015.03.005 |
0.31 |
|
| 2015 |
Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, ... ... Vockley J, et al. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Human Molecular Genetics. 24: 3238-47. PMID 25721401 DOI: 10.1093/Hmg/Ddv074 |
0.425 |
|
| 2015 |
Mohsen AWA, Vockley J. Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands Biochimie. 108: 108-119. PMID 25450250 DOI: 10.1016/J.Biochi.2014.11.007 |
0.306 |
|
| 2015 |
Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E. Corrigendum to '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', Molecular Genetics and Metabolism (2015) 53-60 Molecular Genetics and Metabolism. 116: 221. DOI: 10.1016/J.Ymgme.2015.09.006 |
0.396 |
|
| 2015 |
Goldstein A, Ghaloul-Gonzalez L, Dobrowolski S, Vockley CW, Irani A, Wayburn B, Holmes Morton D, Vockley J. Mitochondrial respiratory chain disorders in the old order Amish population Mitochondrion. 24: S39. DOI: 10.1016/J.Mito.2015.07.108 |
0.308 |
|
| 2014 |
Edmunds LR, Sharma L, Kang A, Lu J, Vockley J, Basu S, Uppala R, Goetzman ES, Beck ME, Scott D, Prochownik EV. c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate. The Journal of Biological Chemistry. 289: 25382-92. PMID 25053415 DOI: 10.1074/Jbc.M114.580662 |
0.37 |
|
| 2014 |
Wang W, Mohsen AW, Uechi G, Schreiber E, Balasubramani M, Day B, Michael Barmada M, Vockley J. Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice Molecular Genetics and Metabolism. 112: 30-39. PMID 24685553 DOI: 10.1016/J.Ymgme.2014.02.014 |
0.442 |
|
| 2014 |
Goetzman ES, Alcorn JF, Bharathi SS, Uppala R, McHugh KJ, Kosmider B, Chen R, Zuo YY, Beck ME, McKinney RW, Skilling H, Suhrie KR, Karunanidhi A, Yeasted R, Otsubo C, ... ... Vockley J, et al. Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction. The Journal of Biological Chemistry. 289: 10668-79. PMID 24591516 DOI: 10.1074/Jbc.M113.540260 |
0.347 |
|
| 2014 |
Mazariegos G, Shneider B, Burton B, Fox IJ, Hadzic N, Kishnani P, Morton DH, McIntire S, Sokol RJ, Summar M, White D, Chavanon V, Vockley J. Liver transplantation for pediatric metabolic disease. Molecular Genetics and Metabolism. 111: 418-27. PMID 24495602 DOI: 10.1016/J.Ymgme.2014.01.006 |
0.309 |
|
| 2014 |
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 188-200. PMID 24385074 DOI: 10.1038/Gim.2013.157 |
0.309 |
|
| 2014 |
He M, Smith LD, Chang R, Li X, Vockley J. The role of sterol-C4-methyl oxidase in epidermal biology. Biochimica Et Biophysica Acta. 1841: 331-5. PMID 24144731 DOI: 10.1016/J.Bbalip.2013.10.009 |
0.322 |
|
| 2013 |
Bharathi SS, Zhang Y, Mohsen AW, Uppala R, Balasubramani M, Schreiber E, Uechi G, Beck ME, Rardin MJ, Vockley J, Verdin E, Gibson BW, Hirschey MD, Goetzman ES. Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site. The Journal of Biological Chemistry. 288: 33837-47. PMID 24121500 DOI: 10.1074/Jbc.M113.510354 |
0.394 |
|
| 2013 |
Waisbren SE, Landau Y, Wilson J, Vockley J. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening Developmental Disabilities Research Reviews. 17: 260-268. PMID 23798014 DOI: 10.1002/Ddrr.1119 |
0.336 |
|
| 2013 |
Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. Molecular Genetics and Metabolism. 110: 111-5. PMID 23712021 DOI: 10.1016/J.Ymgme.2013.03.021 |
0.304 |
|
| 2013 |
Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 109: 21-7. PMID 23480858 DOI: 10.1016/J.Ymgme.2013.02.002 |
0.39 |
|
| 2012 |
Kormanik K, Kang H, Cuebas D, Vockley J, Mohsen AW. Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate Molecular Genetics and Metabolism. 107: 684-689. PMID 23141465 DOI: 10.1016/J.Ymgme.2012.10.009 |
0.415 |
|
| 2012 |
Wolfe LA, Morava E, He M, Vockley J, Gibson KM. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 160: 322-8. PMID 23059969 DOI: 10.1002/Ajmg.C.31345 |
0.326 |
|
| 2012 |
Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, ... Vockley J, et al. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Molecular Genetics and Metabolism. 107: 308-14. PMID 22958974 DOI: 10.1016/J.Ymgme.2012.08.006 |
0.316 |
|
| 2012 |
Schiff M, Bénit P, Jacobs HT, Vockley J, Rustin P. Therapies in inborn errors of oxidative metabolism. Trends in Endocrinology and Metabolism: Tem. 23: 488-95. PMID 22633959 DOI: 10.1016/J.Tem.2012.04.006 |
0.329 |
|
| 2012 |
Graves JA, Wang Y, Sims-Lucas S, Cherok E, Rothermund K, Branca MF, Elster J, Beer-Stolz D, Van Houten B, Vockley J, Prochownik EV. Mitochondrial structure, function and dynamics are temporally controlled by c-Myc. Plos One. 7: e37699. PMID 22629444 DOI: 10.1371/Journal.Pone.0037699 |
0.341 |
|
| 2012 |
Mihalik SJ, Michaliszyn SF, De Las Heras J, Bacha F, Lee S, Chace DH, DeJesus VR, Vockley J, Arslanian SA. Metabolomic profiling of fatty acid and amino acid metabolism in youth with obesity and type 2 diabetes: Evidence for enhanced mitochondrial oxidation Diabetes Care. 35: 605-611. PMID 22266733 DOI: 10.2337/Dc11-1577 |
0.319 |
|
| 2012 |
Knerr I, Weinhold N, Vockley J, Gibson KM. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. Journal of Inherited Metabolic Disease. 35: 29-40. PMID 21290185 DOI: 10.1007/S10545-010-9269-1 |
0.405 |
|
| 2012 |
Vockley J. Book review: Inborn metabolic diseases. Diagnosis and treatment (5th edition) Molecular Genetics and Metabolism. 107: 1-2. DOI: 10.1016/J.Ymgme.2012.06.002 |
0.3 |
|
| 2012 |
Goldstein A, Barone AR, DeWard SJ, Payne N, Vockley J. Triheptanoin therapy for inherited disorders of fatty acid oxidation Mitochondrion. 12: 566. DOI: 10.1016/J.Mito.2012.07.041 |
0.321 |
|
| 2011 |
Luís PBM, Ruiter JPN, IJlst L, De Almeida IT, Duran M, Mohsen AW, Vockley J, Wanders RJA, Silva MFB. 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 Drug Metabolism and Disposition. 39: 1155-1160. PMID 21430231 DOI: 10.1124/Dmd.110.037606 |
0.386 |
|
| 2011 |
He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. The Journal of Clinical Investigation. 121: 976-84. PMID 21285510 DOI: 10.1172/Jci42650 |
0.342 |
|
| 2011 |
He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, Van Veldhoven PP, Ensenauer R, Vockley J. Identification and characterization of new long chain acyl-CoA dehydrogenases. Molecular Genetics and Metabolism. 102: 418-29. PMID 21237683 DOI: 10.1016/J.Ymgme.2010.12.005 |
0.384 |
|
| 2011 |
Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR. Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. Neuromuscular Disorders : Nmd. 21: 219-22. PMID 21211974 DOI: 10.1016/J.Nmd.2010.12.005 |
0.302 |
|
| 2010 |
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. Journal of Inherited Metabolic Disease. 33: S481-7. PMID 21088898 DOI: 10.1007/S10545-010-9246-8 |
0.32 |
|
| 2010 |
Skilling H, Coen PM, Fairfull L, Ferrell RE, Goodpaster BH, Vockley J, Goetzman ES. Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice. Biochemical and Biophysical Research Communications. 400: 318-22. PMID 20727852 DOI: 10.1016/J.Bbrc.2010.08.053 |
0.323 |
|
| 2010 |
Maher AC, Akhtar M, Vockley J, Tarnopolsky MA. Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men. Plos One. 5: e12025. PMID 20700461 DOI: 10.1371/Journal.Pone.0012025 |
0.318 |
|
| 2010 |
Wang Y, Mohsen AW, Mihalik SJ, Goetzman ES, Vockley J. Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes. The Journal of Biological Chemistry. 285: 29834-41. PMID 20663895 DOI: 10.1016/J.Mito.2011.03.031 |
0.394 |
|
| 2010 |
Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J. Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. Molecular Genetics and Metabolism. 100: 333-8. PMID 20547083 DOI: 10.1016/J.Ymgme.2010.04.014 |
0.383 |
|
| 2010 |
Hathaway SC, Friez M, Limbo K, Parker C, Salomons GS, Vockley J, Wood T, Abdul-Rahman OA. X-linked creatine transporter deficiency presenting as a mitochondrial disorder. Journal of Child Neurology. 25: 1009-12. PMID 20501887 DOI: 10.1177/0883073809352109 |
0.32 |
|
| 2010 |
Maher AC, Mohsen AW, Vockley J, Tarnopolsky MA. Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle. Molecular Genetics and Metabolism. 100: 163-7. PMID 20363655 DOI: 10.1016/J.Ymgme.2010.03.011 |
0.352 |
|
| 2010 |
Vockley J, Vockley CMW. Clinical trials: Curing a critical deficiency in metabolic medicine Molecular Genetics and Metabolism. 99: 244-245. PMID 20042356 DOI: 10.1016/J.Ymgme.2009.12.001 |
0.326 |
|
| 2009 |
Swigonová Z, Mohsen AW, Vockley J. Acyl-CoA dehydrogenases: Dynamic history of protein family evolution. Journal of Molecular Evolution. 69: 176-93. PMID 19639238 DOI: 10.1007/S00239-009-9263-0 |
0.34 |
|
| 2008 |
Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. Journal of Inherited Metabolic Disease. 31: S453-6. PMID 19089597 DOI: 10.1007/S10545-008-1039-Y |
0.373 |
|
| 2008 |
Jethva R, Bennett MJ, Vockley J. Short-chain acyl-coenzyme A dehydrogenase deficiency Molecular Genetics and Metabolism. 95: 195-200. PMID 18977676 DOI: 10.1016/J.Ymgme.2008.09.007 |
0.433 |
|
| 2008 |
McAndrew RP, Vockley J, Kim JJP. Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R Journal of Inherited Metabolic Disease. 31: 761-768. PMID 18937046 DOI: 10.1007/S10545-008-0999-2 |
0.361 |
|
| 2008 |
Vockley J. Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases Journal of Inherited Metabolic Disease. 31: 619-629. PMID 18836848 DOI: 10.1007/S10545-008-1005-8 |
0.328 |
|
| 2008 |
Beattie SG, Goetzman E, Tang Q, Conlon T, Campbell-Thompson M, Matern D, Vockley J, Flotte TR. Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice. The Journal of Gene Medicine. 10: 1113-23. PMID 18720429 DOI: 10.1002/Jgm.1242 |
0.382 |
|
| 2008 |
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, ... ... Vockley J, et al. 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. Human Genetics. 124: 43-56. PMID 18523805 DOI: 10.1007/S00439-008-0521-9 |
0.411 |
|
| 2008 |
Beattie SG, Goetzman E, Conlon T, Germain S, Walter G, Campbell-Thompson M, Matern D, Vockley J, Flotte TR. Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD. Human Gene Therapy. 19: 579-88. PMID 18500942 DOI: 10.1089/Hum.2007.168 |
0.322 |
|
| 2008 |
McAndrew RP, Wang Y, Mohsen AW, He M, Vockley J, Kim JJ. Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase. The Journal of Biological Chemistry. 283: 9435-43. PMID 18227065 DOI: 10.1074/Jbc.M709135200 |
0.374 |
|
| 2008 |
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. 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 Molecular Genetics and Metabolism. 93: 179-189. PMID 18054510 DOI: 10.1016/J.Ymgme.2007.09.021 |
0.311 |
|
| 2007 |
Wolfe LA, Finegold DN, Vockley J, Walters N, Chambaz C, Suormala T, Koch HG, Matern D, Barshop BA, Cropcho LJ, Baumgartner MR, Gibson KM. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics. 120: e1335-40. PMID 17908719 DOI: 10.1542/Peds.2007-0674 |
0.388 |
|
| 2007 |
Vockley J. Newborn screening: After the thrill is gone Molecular Genetics and Metabolism. 92: 6-12. PMID 17604202 DOI: 10.1016/J.Ymgme.2007.05.012 |
0.309 |
|
| 2007 |
Lee YW, Lee DH, Vockley J, Kim ND, Lee YK, Ki CS. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. Molecular Genetics and Metabolism. 92: 71-7. PMID 17576084 DOI: 10.1016/J.Ymgme.2007.05.003 |
0.346 |
|
| 2007 |
He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. American Journal of Human Genetics. 81: 87-103. PMID 17564966 DOI: 10.1086/519219 |
0.443 |
|
| 2007 |
Goetzman ES, Wang Y, He M, Mohsen AW, Ninness BK, Vockley J. Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. Molecular Genetics and Metabolism. 91: 138-47. PMID 17374501 DOI: 10.1016/J.Ymgme.2007.01.013 |
0.385 |
|
| 2007 |
Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 108-16. PMID 17304052 DOI: 10.1097/Gim.0B013E31802F78D6 |
0.411 |
|
| 2006 |
Merritt JL, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB. In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase Molecular Genetics and Metabolism. 88: 351-358. PMID 16621643 DOI: 10.1016/J.Ymgme.2006.02.010 |
0.399 |
|
| 2006 |
Vockley J, Ensenauer R. Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity American Journal of Medical Genetics - Seminars in Medical Genetics. 142: 95-103. PMID 16602101 DOI: 10.1002/Ajmg.C.30089 |
0.427 |
|
| 2006 |
Conlon TJ, Walter G, Owen R, Cossette T, Erger K, Gutierrez G, Goetzman E, Matern D, Vockley J, Flotte TR. Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector. Human Gene Therapy. 17: 71-80. PMID 16409126 DOI: 10.1089/Hum.2006.17.71 |
0.388 |
|
| 2006 |
Goetzman ES, He M, Nguyen TV, Vockley J. Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism Molecular Genetics and Metabolism. 87: 233-242. PMID 16376132 DOI: 10.1016/J.Ymgme.2005.09.027 |
0.358 |
|
| 2006 |
Nguyen T, Daniels J, Merritt L, Matern D, Vockley J, Wood PA, Schowalter DB. 232. Short_Term, In Vivo Correction of VLCAD Deficiency in Mice: Steps toward a Gene Therapy for Cardiomyopathy Molecular Therapy. 13. DOI: 10.1016/J.Ymthe.2006.08.258 |
0.405 |
|
| 2005 |
Saenger AK, Nguyen TV, Vockley J, Stankovich MT. Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding. Biochemistry. 44: 16043-53. PMID 16331964 DOI: 10.1021/Bi051048Y |
0.353 |
|
| 2005 |
Saenger AK, Nguyen TV, Vockley J, Stankovich MT. Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases. Biochemistry. 44: 16035-42. PMID 16331963 DOI: 10.1021/Bi051049Q |
0.372 |
|
| 2005 |
Tolwani RJ, Hamm DA, Tian L, Sharer JD, Vockley J, Rinaldo P, Matern D, Schoeb TR, Wood PA. Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. Plos Genetics. 1: e23. PMID 16121256 DOI: 10.1371/Journal.Pgen.0010023 |
0.401 |
|
| 2005 |
Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen AW, Isaya G, Vockley J. Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. The Journal of Biological Chemistry. 280: 32309-16. PMID 16020546 DOI: 10.1074/Jbc.M504460200 |
0.406 |
|
| 2005 |
Schowalter DB, Matern D, Vockley J. In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector Molecular Genetics and Metabolism. 85: 88-95. PMID 15896652 DOI: 10.1016/J.Ymgme.2005.02.006 |
0.345 |
|
| 2005 |
Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Molecular Genetics and Metabolism. 85: 7-11. PMID 15862275 DOI: 10.1016/J.Ymgme.2004.09.006 |
0.387 |
|
| 2005 |
Goetzman ES, Mohsen AWA, Prasad K, Vockley J. Convergent evolution of a 2-methylbutyryl-CoA dehydrogenase from isovaleryl-CoA dehydrogenase in Solanum tuberosum Journal of Biological Chemistry. 280: 4873-4879. PMID 15574432 DOI: 10.1074/Jbc.M412640200 |
0.345 |
|
| 2005 |
Merritt JL, Vockley J, Matern D, He M, Schowalter DB. 921. Steps toward Cardiomyopathy Gene Therapy: In Vivo Expression of Human VLCAD Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.464 |
0.392 |
|
| 2004 |
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. American Journal of Human Genetics. 75: 1136-42. PMID 15486829 DOI: 10.1086/426318 |
0.34 |
|
| 2004 |
Yu W, Liang X, Ensenauer RE, Vockley J, Sweetman L, Schulz H. 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. The Journal of Biological Chemistry. 279: 52160-7. PMID 15466478 DOI: 10.1074/Jbc.M409640200 |
0.372 |
|
| 2004 |
Nasser I, Mohsen AW, Jelesarov I, Vockley J, MacHeroux P, Ghisla S. Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: Study of the effect of genetic defects on enzyme stability Biochimica Et Biophysica Acta - Molecular Basis of Disease. 1690: 22-32. PMID 15337167 DOI: 10.1016/J.Bbadis.2004.04.008 |
0.348 |
|
| 2004 |
Battaile KP, Nguyen TV, Vockley J, Kim JJ. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. The Journal of Biological Chemistry. 279: 16526-34. PMID 14752098 DOI: 10.1074/Jbc.M400034200 |
0.345 |
|
| 2004 |
Merritt JL, Matern D, Vockley J, Huey J, Schowalter DB. 438. In Vitro Studies Towards the Development of a Recombinant Adeno-Associated Virus for the Treatment of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.414 |
0.371 |
|
| 2003 |
Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, Korall H, Roskos M, Deufel T, Trefz KF, Sewell AC, Kauf E, Zintl F, Lehnert W, Gregersen N. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene Journal of Inherited Metabolic Disease. 26: 37-42. PMID 12872838 DOI: 10.1023/A:1024019311933 |
0.408 |
|
| 2003 |
Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S, Hirano M. A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscular Disorders : Nmd. 13: 334-40. PMID 12868503 DOI: 10.1016/S0960-8966(02)00283-3 |
0.333 |
|
| 2003 |
He M, Burghardt TP, Vockley J. A novel approach to the characterization of substrate specificity in short/branched chain acyl-CoA dehydrogenase Journal of Biological Chemistry. 278: 37974-37986. PMID 12855692 DOI: 10.1074/Jbc.M306882200 |
0.359 |
|
| 2003 |
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 112: 74-8. PMID 12837870 DOI: 10.1542/Peds.112.1.74 |
0.36 |
|
| 2003 |
Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatric Research. 54: 219-23. PMID 12736383 DOI: 10.1203/01.Pdr.0000074972.36356.89 |
0.311 |
|
| 2003 |
Rao KS, Albro M, Vockley J, Frerman FE. Mechanism-based inactivation of human glutaryl-CoA dehydrogenase by 2-pentynoyl-CoA: rationale for enhanced reactivity. The Journal of Biological Chemistry. 278: 26342-50. PMID 12716879 DOI: 10.1074/Jbc.M210781200 |
0.342 |
|
| 2002 |
Vockley J, Singh RH, Whiteman DA. Diagnosis and management of defects of mitochondrial beta-oxidation. Current Opinion in Clinical Nutrition and Metabolic Care. 5: 601-9. PMID 12394635 DOI: 10.1097/00075197-200211000-00002 |
0.317 |
|
| 2002 |
Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AWA, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans Molecular Genetics and Metabolism. 77: 68-79. PMID 12359132 DOI: 10.1016/S1096-7192(02)00152-X |
0.395 |
|
| 2002 |
Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, Gregersen N, Vockley J. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme Biochemistry. 41: 11126-11133. PMID 12220177 DOI: 10.1021/Bi026030R |
0.36 |
|
| 2002 |
Vockley J, Whiteman DAH. Defects of mitochondrial β-oxidation: A growing group of disorders Neuromuscular Disorders. 12: 235-246. PMID 11801395 DOI: 10.1016/S0960-8966(01)00308-X |
0.365 |
|
| 2001 |
Volchenboum SL, Mohsen AWA, Kim JJP, Vockley J. Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding Molecular Genetics and Metabolism. 74: 226-237. PMID 11592819 DOI: 10.1006/Mgme.2001.3234 |
0.328 |
|
| 2001 |
Willard JM, Reinard T, Mohsen AW, Vockley J. Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs Gene. 270: 253-257. PMID 11404023 DOI: 10.1016/S0378-1119(01)00466-8 |
0.307 |
|
| 2001 |
Mohsen AWA, Navarette B, Vockley J. Identification of Caenorhabditis elegans isovaleryl-CoA dehydrogenase and structural comparison with other Acyl-CoA dehydrogenases Molecular Genetics and Metabolism. 73: 126-137. PMID 11386848 DOI: 10.1006/Mgme.2001.3183 |
0.339 |
|
| 2001 |
Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J. Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. American Journal of Human Genetics. 68: 839-47. PMID 11231903 DOI: 10.1086/319520 |
0.389 |
|
| 2000 |
Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways Molecular Genetics and Metabolism. 71: 10-18. PMID 11001791 DOI: 10.1006/Mgme.2000.3066 |
0.375 |
|
| 2000 |
Vockley J, Mohsen AWA, Binzak B, Willard J, Fauq A. Mammalian branched-chain Acyl-CoA dehydrogenases: Molecular cloning and characterization of recombinant enzymes Methods in Enzymology. 324: 241-258. PMID 10989435 DOI: 10.1016/S0076-6879(00)24236-5 |
0.339 |
|
| 2000 |
Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O'Brien LK, Jones PM, Bennett MJ. Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study Journal of Pediatrics. 137: 257-259. PMID 10931422 DOI: 10.1067/Mpd.2000.107467 |
0.332 |
|
| 2000 |
Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, ... Vockley J, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatric Research. 47: 830-3. PMID 10832746 DOI: 10.1203/00006450-200006000-00025 |
0.369 |
|
| 2000 |
Lea W, Abbas AS, Sprecher H, Vockley J, Schulz H. Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids. Biochimica Et Biophysica Acta. 1485: 121-8. PMID 10832093 DOI: 10.1016/S1388-1981(00)00034-2 |
0.367 |
|
| 2000 |
Binzak BA, Vockley JG, Jenkins RB, Vockley J. Structure and analysis of the human dimethylglycine dehydrogenase gene Molecular Genetics and Metabolism. 69: 181-187. PMID 10767172 DOI: 10.1006/Mgme.2000.2980 |
0.373 |
|
| 2000 |
Volchenboum SL, Vockley J. Mitochondrial import and processing of wild type and Type III mutant isovaleryl-CoA dehydrogenase Journal of Biological Chemistry. 275: 7958-7963. PMID 10713113 DOI: 10.1074/Jbc.275.11.7958 |
0.379 |
|
| 2000 |
Gibson KM, Burlingame T, Hogema B, Jakobs C, Schutgens RBH, Millington D, Roe C, Roe D, Sweetman L, Steiner RD, Linck L, Pohowalla P, Kiss D, Sacks M, Rinaldo P, ... Vockley J, et al. 2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism Genetics in Medicine. 2: 71-72. DOI: 10.1097/00125817-200001000-00074 |
0.346 |
|
| 1999 |
Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. The Journal of Pediatrics. 135: 775-81. PMID 10586187 DOI: 10.1016/S0022-3476(99)70103-4 |
0.314 |
|
| 1999 |
Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 99: 1337-43. PMID 10077518 DOI: 10.1161/01.Cir.99.10.1337 |
0.425 |
|
| 1999 |
Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA. Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study Clinical Chemistry. 45: 459-464. DOI: 10.1093/Clinchem/45.4.459 |
0.338 |
|
| 1998 |
Kurtz DM, Rinaldo P, Rhead WJ, Tian L, Millington DS, Vockley J, Hamm DA, Brix AE, Lindsey JR, Pinkert CA, O'Brien WE, Wood PA. Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation. Proceedings of the National Academy of Sciences of the United States of America. 95: 15592-7. PMID 9861014 DOI: 10.1073/Pnas.95.26.15592 |
0.405 |
|
| 1998 |
Mohsen AWA, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJP, Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia Biochemistry. 37: 10325-10335. PMID 9665741 DOI: 10.1021/Bi973096R |
0.357 |
|
| 1998 |
Binzak B, Willard J, Vockley J. Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis Biochimica Et Biophysica Acta - Protein Structure and Molecular Enzymology. 1382: 137-142. PMID 9507094 DOI: 10.1016/S0167-4838(97)00161-1 |
0.366 |
|
| 1998 |
Battaile KP, McBurney M, Van Veldhoven PP, Vockley J. Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2-methylpentadecanoyl-CoA Biochimica Et Biophysica Acta - Lipids and Lipid Metabolism. 1390: 333-338. PMID 9487154 DOI: 10.1016/S0005-2760(97)00185-9 |
0.384 |
|
| 1997 |
Dakoji S, Shin I, Battaile KP, Vockley J, Liu HW. Redesigning the active-site of an acyl-CoA dehydrogenase: New evidence supporting a one-base mechanism Bioorganic and Medicinal Chemistry. 5: 2157-2164. PMID 9459013 DOI: 10.1016/S0968-0896(97)00159-4 |
0.311 |
|
| 1997 |
Tiffany KA, Roberts DL, Wang M, Paschke R, Mohsen AWA, Vockley J, Kim JJP. Structure of human isovaleryl-CoA dehydrogenase at 2.6 Å resolution: Structural basis for substrate specificity Biochemistry. 36: 8455-8464. PMID 9214289 DOI: 10.1021/Bi970422U |
0.324 |
|
| 1997 |
Schaller RA, Mohsen AWA, Vockley J, Thorpe C. Mechanism-based inhibitor discrimination in the acyl-CoA dehydrogenases Biochemistry. 36: 7761-7768. PMID 9201918 DOI: 10.1021/Bi970095Q |
0.352 |
|
| 1996 |
Battaile KP, Mohsen AWA, Vockley J. Functional role of the active site glutamate-368 in rat short chain acyl-CoA dehydrogenase Biochemistry. 35: 15356-15363. PMID 8952487 DOI: 10.1021/Bi961113R |
0.356 |
|
| 1996 |
Willard J, Vicanek C, Battaile KP, Van Veldhoven PP, Fauq AH, Rozen R, Vockley J. Cloning of a cDNA for short/branched chain acyl-coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity Archives of Biochemistry and Biophysics. 331: 127-133. PMID 8660691 DOI: 10.1006/Abbi.1996.0290 |
0.353 |
|
| 1995 |
Mohsen AWA, Vockley J. High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli Gene. 160: 263-267. PMID 7642107 DOI: 10.1016/0378-1119(95)00256-6 |
0.316 |
|
| 1995 |
Mohsen AWA, Vockley J. Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase Biochemistry. 34: 10146-10152. PMID 7640268 DOI: 10.1021/Bi00032A007 |
0.324 |
|
| 1994 |
Rozen R, Vockley J, Zhou L, Milos R, Willard J, Fu K, Vicanek C, Low-Nang L, Torban E, Fournier B. Isolation and Expression of a cDNA Encoding the Precursor for a Novel Member (ACADSB) of the Acyl-CoA Dehydrogenase Gene Family Genomics. 24: 280-287. PMID 7698750 DOI: 10.1006/Geno.1994.1617 |
0.383 |
|
| 1994 |
Vockley J. The changing face of disorders of fatty acid oxidation Mayo Clinic Proceedings. 69: 249-257. DOI: 10.1016/S0025-6196(12)61064-7 |
0.409 |
|
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