| 1 | ACADVL, VLCADD
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| Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
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| D'Annibale OM, Koppes EA, Sethuraman M, Bloom K, Mohsen AW, Vockley J.
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| J Inherit Metab Dis. May;45(3):529-540. doi: 10.1002/jimd.12492. Epub 2022 Mar 11. 2022
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| 2 | ACADVL
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| Very long chain fatty acid metabolism is required in acute myeloid leukemia
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| Tcheng M, Roma A, Ahmed N, Smith RW, Jayanth P, Minden MD, Schimmer AD, Hess DA, Hope K, Rea KA, Akhtar TA, Bohrnsen E, D'Alessandro A, Mohsen AW, Vockley J, Spagnuolo PA.
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| Blood. Jun 24;137(25):3518-3532. doi: 10.1182/blood.2020008551. 2021
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| 3 | ACADVL
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| Disturbance of mitochondrial functions associated with permeability transition pore opening induced by cis-5-tetradecenoic and myristic acids in liver of adolescent rats
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| Cecatto C, Amaral AU, Wajner A, Wajner SM, Castilho RF, Wajner M.
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| Mitochondrion Jan;50:1-13. doi: 10.1016/j.mito.2019.09.008. Epub 2019 Oct 23 2020
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| 4 | ACADVL, PBXIP1, RPS25
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| Endometrial stromal cell proteome mapping in repeated implantation failure and recurrent pregnancy loss cases and fertile women.
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| Dhaenens L, Lierman S, De Clerck L, Govaert E, Deforce D, Tilleman K, De Sutter P.
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| Reprod Biomed Online. Mar;38(3):442-454. doi: 10.1016/j.rbmo.2018.11.022. Epub 2018 Dec 23. 2019
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| 5 | ACADVL, VLCADD
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| The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).2018 PMID:
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| Hesse J, Braun C, Behringer S, Matysiak U, Spiekerkoetter U, Tucci S.
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| J Inherit Metab Dis. Nov;41(6):1169-1178. doi: 10.1007/s10545-018-0245-5. Epub 2018 Sep 7. 2018
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| 6 | ACADVL, VLCADD
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| Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
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| Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.
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| Mol Genet Metab. Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. 2015
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| 7 | ACADVL, VLCADD
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| Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
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| Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G.
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| Genet Med. Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2. 2015
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| 8 | ACADVL, VLCADD
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| Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
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| Xiong D, He H, James J, Tokunaga C, Powers C, Huang Y, Osinska H, Towbin JA, Purevjav E, Balschi JA, Javadov S, McGowan FX Jr, Strauss AW, Khuchua Z.
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| Am J Physiol Heart Circ Physiol. Feb;306(3):H326-38. doi: 10.1152/ajpheart.00931.2012. Epub 2013 Nov 27 2014
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| 9 | ACADVL, VLCADD
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| Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
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| Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J.
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| Mol Genet Metab May;109(1):21-7. doi: 10.1016/j.ymgme.2013.02.002. Epub 2013 Feb 13. 2013
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| 10 | HADHA, ACADVL
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| Long-Chain Fatty Acid Oxidation during Early Human Development.
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| Oey NA, DEN Boer ME, Wijburg FA, Vekemans M, Auge J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attie-Bitach T.
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| Pediatr Res 57(6):755-9. Epub 2005 Apr 21. 2005
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| 11 | DLG4, ACADVL
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| Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95.
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| Zhang LF, Ding JH, Yang BZ, He GC, Roe C.
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| Genomics 82(6):660-8. 2003
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| 12 | ACADVL, AIPL1, ALOX12, ATP1B1, CACP, CD68, CLDN7, DLG4, EIF4A1, GABARAP, RABEP1, SHBG, SLC2A4
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| A physical and expression map of the D17S1810-D17S1353 region spanning the central areolar choroidal dystrophy locus.
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| Lichanska AM, McGibbon D, Silvestri G, Hughes AE.
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| Cytogenet Cell Genet 93(1-2):43-7. 2001
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| 13 | ACADVL, VLCADD
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| Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
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| Andresen BS, et al.
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| Am J Hum Genet 64(2):479-94. 1999
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| 14 | ACADVL, VLCADD
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| Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
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| He G, Yang BZ, Roe DS, Teramoto R, Aleck K, Grebe TA, Roe CR, Ding JH.
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| Biochem Biophys Res Commun 264(2):483-7 1999
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| 15 | ACADVL
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| Characterization of the human very-long-chain acyl-CoA dehydrogenase gene promoter region: a role for activator protein 2.
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| Zhou Y, Kelly DP, Strauss AW, Sims H, Zhang Z.
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| Mol Genet Metab 68(4):481-7. 1999
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| 16 | ACADVL, ACADL
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| Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.
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| Andresen BS, et al.
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| Hum Mol Genet 5 : 461-472. 1996
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| 17 | ACADVL
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| Assignment of the human mitochondrial very-long-chain Acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization.
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| Aoyama T, et al.
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| Genomics 37 : 144-145. 1996
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| 18 | ACADVL
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| Genomic DNA organization of human mitochondrial very-long-chain acyl-CoAdehydrogenase and mutation analysis.
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| Orii KO, et al.
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| Biochem Biophys Res Commun 217 : 987-992. 1995
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| 19 | ACADVL, VLCADD
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| Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
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| Aoyama T, et al.
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| Am J Hum Genet 57 : 273-283. 1995
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