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Items: 1 to 20 of 71

1.
Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients
Chih-Chin Hsu, Jong-Shyan Wang, Yu-Chiau Shyu, Tieh-Cheng Fu, Yu-Hsiang Juan, Shin-Sheng Yuan, Chao-Hung Wang, Chi-Hsiao Yeh, Po-Cheng Liao, Hsin-Yi Wu, Pang-Hung Hsu
J Transl Med. 2023; 21: 187. Published online 2023 Mar 10. doi: 10.1186/s12967-023-04032-7
PMCID:
PMC9999524
ArticlePDF–2.9M
2.
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
Olivia M. D’Annibale, Yu Leng Phua, Clinton Van’t Land, Anuradha Karunanidhi, Alejandro Dorenbaum, Al-Walid Mohsen, Jerry Vockley
Cells. 2022 Sep; 11(17): 2635. Published online 2022 Aug 24. doi: 10.3390/cells11172635
PMCID:
PMC9454759
ArticlePDF–2.1M
3.
Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency
Michelle S. Prew, Christina M. Camara, Thomas Botzanowski, Jamie A. Moroco, Noah B. Bloch, Hannah R. Levy, Hyuk-Soo Seo, Sirano Dhe-Paganon, Gregory H. Bird, Henry D. Herce, Micah A. Gygi, Silvia Escudero, Thomas E. Wales, John R. Engen, Loren D. Walensky
Nat Commun. 2022; 13: 3669. Published online 2022 Jun 27. doi: 10.1038/s41467-022-31466-2
PMCID:
PMC9237092
ArticlePDF–2.1M
4.
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
Olivia M. D’Annibale, Erik A. Koppes, Meena Sethuraman, Kaitlyn Bloom, Al-Walid Mohsen, Jerry Vockley
J Inherit Metab Dis. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: J Inherit Metab Dis. 2022 May; 45(3): 529–540. Published online 2022 Mar 11. doi: 10.1002/jimd.12492
PMCID:
PMC9090957
ArticlePDF–1.1M
5.
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency
Ting Chen, Fan Tong, Xiao-yu Wu, Ling Zhu, Qiu-zi Yi, Jing Zheng, Ru-lai Yang, Zheng-yan Zhao, Xiao-hui Cang, Qiang Shu, Ping-ping Jiang
J Zhejiang Univ Sci B. 2020 Nov; 21(11): 885–896. doi: 10.1631/jzus.B2000339
PMCID:
PMC7691688
ArticlePDF–2.1M
6.
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
Loren D.M. Pena, Sandra C. van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia Cameron, Al-Walid Mohsen, Susan A Berry, Georgianne L Arnold, Jerry Vockley, for the IBEMC
Mol Genet Metab. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Mol Genet Metab. 2016 Aug; 118(4): 272–281. Published online 2016 May 13. doi: 10.1016/j.ymgme.2016.05.007
PMCID:
PMC4970910
ArticlePDF–809K
7.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
Marcus J. Miller, Lindsay C. Burrage, James B. Gibson, Meghan E. Strenk, Edward J. Lose, David P. Bick, Sarah H. Elsea, V. Reid Sutton, Qin Sun, Brett H. Graham, William J. Craigen, Victor Wei Zhang, Lee-Jun C. Wong
Mol Genet Metab. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Mol Genet Metab. 2015 Nov; 116(3): 139–145. Published online 2015 Sep 2. doi: 10.1016/j.ymgme.2015.08.011
PMCID:
PMC4790081
ArticlePDF–472K
8.
Molecular and Cellular Pathology of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency
Manuel Schiff, Al-Walid Mohsen, Anuradha Karunanidhi, Elizabeth McCracken, Renita Yeasted, Jerry Vockley
Mol Genet Metab. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Mol Genet Metab. 2013 May; 109(1): 21–27. Published online 2013 Feb 13. doi: 10.1016/j.ymgme.2013.02.002
PMCID:
PMC3628282
ArticlePDF–1.6M
9.
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: combined analysis by structural, functional and pharmacological approaches
Stéphanie Gobin-Limballe, Ryan P. McAndrew, Fatima Djouadi, Jung-Ja Kim, Jean Bastin
Biochim Biophys Acta. Author manuscript; available in PMC 2012 Jul 21.
Published in final edited form as: Biochim Biophys Acta. 2010 May; 1802(5): 478–484. Published online 2010 Jan 12. doi: 10.1016/j.bbadis.2010.01.001
PMCID:
PMC3401415
ArticlePDF–1.7M
10.
EXPRESSION AND CHARACTERIZATION OF MUTATIONS IN HUMAN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE USING A PROKARYOTIC SYSTEM
Eric S. Goetzman, Yudong Wang, Miao He, Al-Walid Mohsen, Brittani K. Ninness, Jerry Vockley
Mol Genet Metab. Author manuscript; available in PMC 2009 Jun 29.
Published in final edited form as: Mol Genet Metab. 2007 Jun; 91(2): 138–147. Published online 2007 Mar 19. doi: 10.1016/j.ymgme.2007.01.013
PMCID:
PMC2702680
ArticlePDF–1.9M
11.
Structural Basis for Substrate Fatty Acyl Chain Specificity: CRYSTAL STRUCTURE OF HUMAN VERY-LONG-CHAIN ACYL-CoA DEHYDROGENASE
Ryan P. McAndrew, Yudong Wang, Al-Walid Mohsen, Miao He, Jerry Vockley, Jung-Ja P. Kim
J Biol Chem. 2008 Apr 4; 283(14): 9435–9443. doi: 10.1074/jbc.M709135200
PMCID:
PMC2431035
ArticlePDF–843K
12.
Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy
S.  Gobin-Limballe, F.  Djouadi, F.  Aubey, S.  Olpin, B. S.  Andresen, S.  Yamaguchi, H.  Mandel, T.  Fukao, J. P. N.  Ruiter, R. J. A.  Wanders, R.  McAndrew, J. J.  Kim, J.  Bastin
Am J Hum Genet. 2007 Dec; 81(6): 1133–1143. Published online 2007 Oct 29. doi: 10.1086/522375
PMCID:
PMC2276345
ArticlePDF–442K
13.
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.
M. Souri, T. Aoyama, K. Orii, S. Yamaguchi, T. Hashimoto
Am J Hum Genet. 1996 Jan; 58(1): 97–106.
PMCID:
PMC1914938
SummaryPage BrowsePDF–2.1M
14.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
B S Andresen, S Olpin, B J Poorthuis, H R Scholte, C Vianey-Saban, R Wanders, L Ijlst, A Morris, M Pourfarzam, K Bartlett, E R Baumgartner, J B deKlerk, L D Schroeder, T J Corydon, H Lund, V Winter, P Bross, L Bolund, N Gregersen
Am J Hum Genet. 1999 Feb; 64(2): 479–494. doi: 10.1086/302261
PMCID:
PMC1377757
SummaryPDF–395K
15.
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
T Aoyama, M Souri, S Ushikubo, T Kamijo, S Yamaguchi, R I Kelley, W J Rhead, K Uetake, K Tanaka, T Hashimoto
J Clin Invest. 1995 Jun; 95(6): 2465–2473. doi: 10.1172/JCI117947
PMCID:
PMC295925
SummaryPage BrowsePDF–2.3M
16.
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
A W Strauss, C K Powell, D E Hale, M M Anderson, A Ahuja, J C Brackett, H F Sims
Proc Natl Acad Sci U S A. 1995 Nov 7; 92(23): 10496–10500. doi: 10.1073/pnas.92.23.10496
PMCID:
PMC40638
SummaryPage BrowsePDF–1.4M
17.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2
Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, Monisha Kisling, Fernando Scaglia, Kimberly A. Chapman, Yudong Wang, Jerry Vockley, Carlos R. Ferreira
Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 25.
Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2426–2431. Published online 2020 Aug 17. doi: 10.1002/ajmg.a.61786
PMCID:
PMC8543298
ArticlePDF–724K
18.
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery
Judith Hagenbuchner, Sabine Scholl-Buergi, Daniela Karall, Michael J. Ausserlechner
Sci Rep. 2018; 8: 3254. Published online 2018 Feb 19. doi: 10.1038/s41598-018-21519-2
PMCID:
PMC5818531
ArticlePDF–4.2M
19.
Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy
Jose L. Bartha, Fernando Bugatto, Álvaro Fernández-Deudero, Rosa Fernández-Macías, Germán Perdomo
Lipids Health Dis. 2016; 15: 200. Published online 2016 Nov 21. doi: 10.1186/s12944-016-0373-6
PMCID:
PMC5117526
ArticlePDF–422K
20.
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
T Aoyama, M Souri, I Ueno, T Kamijo, S Yamaguchi, W J Rhead, K Tanaka, T Hashimoto
Am J Hum Genet. 1995 Aug; 57(2): 273–283.
PMCID:
PMC1801555
SummaryPage BrowsePDF–2.4M

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