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Select item 87111291.

Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma

Francesca Puca, Fei Yu, Caterina Bartolacci, Piergiorgio Pettazzoni, Alessandro Carugo, Emmet Huang-Hobbs, Jintan Liu, Ciro Zanca, Federica Carbone, Edoardo Del Poggetto, Joy Gumin, Pushan Dasgupta, Sahil Seth, Sanjana Srinivasan, Frederick F. Lang, Erik P. Sulman, Philip L. Lorenzi, Lin Tan, Mengrou Shan, Zachary P. Tolstyka, Maureen Kachman, Li Zhang, Sisi Gao, Angela K. Deem, Giannicola Genovese, Pier Paolo Scaglioni, Costas A. Lyssiotis, Andrea Viale, Giulio F. Draetta

Cancer Discov. 2021 Nov 1; 11(11): 2904–2923. Published online 2021 May 26. doi: 10.1158/2159-8290.CD-20-1437

PMCID:: PMC8711129

Article PDF–7.2M

Select item 55388962.

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency

Rebecca C. Ahrens-Nicklas, Louise C. Pyle, Can Ficicioglu

Genet Med. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Genet Med. 2016 Dec; 18(12): 1315–1319. Published online 2016 May 5. doi: 10.1038/gim.2016.49

PMCID:: PMC5538896

Article PDF–422K

Select item 50315453.

221 Newborn-Screened Neonates with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. Berry

Mol Genet Metab. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Mol Genet Metab. 2016 Sep; 119(1-2): 75–82. Published online 2016 Jul 15. doi: 10.1016/j.ymgme.2016.07.002

PMCID:: PMC5031545

Article PDF–399K

Select item 45578194.

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Sarah C. Grünert, A. Wehrle, P. Villavicencio-Lorini, E. Lausch, B. Vetter, K. O. Schwab, S. Tucci, U. Spiekerkoetter

BMC Med Genet. 2015; 16: 56. Published online 2015 Jul 30. doi: 10.1186/s12881-015-0199-5

PMCID:: PMC4557819

Article PDF–1.3M

Select item 39817365.

The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

Johanna M. Jank, Esther M. Maier, Dunja D. Reiß, Martin Haslbeck, Kristina F. Kemter, Marietta S. Truger, Christian P. Sommerhoff, Sacha Ferdinandusse, Ronald J. Wanders, Søren W. Gersting, Ania C. Muntau

PLoS One. 2014; 9(4): e93852. Published online 2014 Apr 9. doi: 10.1371/journal.pone.0093852

Correction in:: PLoS One. 2014; 9(8): e107094.

PMCID:: PMC3981736

Article PDF–1.3M

Select item 35432396.

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders, Hans R Waterham, Dirk-Jan Reijngoud, Terry G J Derks

Orphanet J Rare Dis. 2012; 7: 30. Published online 2012 May 25. doi: 10.1186/1750-1172-7-30

PMCID:: PMC3543239

Article PDF–368K

Select item 35041307.

Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate

Kaitlyn Kormanik, Heejung Kang, Dean Cuebas, Jerry Vockley, Al-Walid Mohsen

Mol Genet Metab. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Mol Genet Metab. 2012 Dec; 107(4): 684–689. Published online 2012 Oct 18. doi: 10.1016/j.ymgme.2012.10.009

PMCID:: PMC3504130

Article PDF–1.1M

Select item 34444858.

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Marga Sturm, Diran Herebian, Martina Mueller, Maurice D. Laryea, Ute Spiekerkoetter

PLoS One. 2012; 7(9): e45110. Published online 2012 Sep 17. doi: 10.1371/journal.pone.0045110

PMCID:: PMC3444485

Article PDF–473K

Select item 31110349.

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

Hye In Woo, Hyung-Doo Park, Yong-Wha Lee, Dong Hwan Lee, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim

Korean J Lab Med. 2011 Jan; 31(1): 54–60. Published online 2011 Jan 10. doi: 10.3343/kjlm.2011.31.1.54

PMCID:: PMC3111034

Article PDF–966K

Select item 299635510.

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

Shelley Kennedy, Beth K Potter, Kumanan Wilson, Lawrence Fisher, Michael Geraghty, Jennifer Milburn, Pranesh Chakraborty

BMC Pediatr. 2010; 10: 82. Published online 2010 Nov 17. doi: 10.1186/1471-2431-10-82

PMCID:: PMC2996355

Article PDF–225K

Select item 271510811.

A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns

Frank ter Veld, Martina Mueller, Simone Kramer, Ulrike Haussmann, Diran Herebian, Ertan Mayatepek, Maurice D. Laryea, Sonja Primassin, Ute Spiekerkoetter

PLoS One. 2009; 4(7): e6449. Published online 2009 Jul 30. doi: 10.1371/journal.pone.0006449

PMCID:: PMC2715108

Article PDF–167K

Select item 234264612.

β-Oxidation of 5-hydroxydecanoate, a Putative Blocker of Mitochondrial ATP-Sensitive Potassium Channels

Peter J Hanley, K V Gopalan, Rachel A Lareau, D K Srivastava, von Martin Meltzer, Jürgen Daut

J Physiol. 2003 Mar 1; 547(Pt 2): 387–393. Published online 2003 Jan 31. doi: 10.1113/jphysiol.2002.037044

PMCID:: PMC2342646

Article PDF–528K

Select item 191818413.

Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene

Brage Storstein Andresen, Thomas G. Jensen, Peter Bross, Inga Knudsen, Vibeke Winter, Steen Kølvraa, Lars Bolund, Jia-Huan Ding, Yuan-Tsong Chen, Johan L. K. Van Hove, Diana Curtis, Ichiro Yokota, Kay Tanaka, Jung-Ja Park Kim, Niels Gregersen

Am J Hum Genet. 1994 Jun; 54(6): 975–988.

PMCID:: PMC1918184

Summary Page Browse PDF–2.6M

Select item 172130314.

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

K Carpenter, V Wiley, K Sim, D Heath, B Wilcken

Arch Dis Child Fetal Neonatal Ed. 2001 Sep; 85(2): F105–F109. doi: 10.1136/fn.85.2.F105

PMCID:: PMC1721303

Summary PDF–120K

Select item 168645615.

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

I Yokota, P M Coates, D E Hale, P Rinaldo, K Tanaka

Am J Hum Genet. 1991 Dec; 49(6): 1280–1291.

PMCID:: PMC1686456

Summary Page Browse PDF–2.3M

Select item 168251816.

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

J H Ding, B Z Yang, Y Bao, C R Roe, Y T Chen

Am J Hum Genet. 1992 Jan; 50(1): 229–233.

PMCID:: PMC1682518

Summary Page Browse PDF–855K

Select item 122612717.

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

Brage Storstein Andresen, Steve F. Dobrowolski, Linda O'Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas, Donald H. Chace, Paul Engel, Edwin W. Naylor, Niels Gregersen

Am J Hum Genet. 2001 Jun; 68(6): 1408–1418. Published online 2001 May 8. doi: 10.1086/320602

PMCID:: PMC1226127

Article PDF–163K

Select item 121995618.

Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

B Küchler, A G Abdel-Ghany, P Bross, A Nandy, I Rasched, S Ghisla

Biochem J. 1999 Jan 15; 337(Pt 2): 225–230.

PMCID:: PMC1219956

Summary PDF–172K

Select item 38654019.

Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.

Y Matsubara, J P Kraus, T L Yang-Feng, U Francke, L E Rosenberg, K Tanaka

Proc Natl Acad Sci U S A. 1986 Sep; 83(17): 6543–6547. doi: 10.1073/pnas.83.17.6543

PMCID:: PMC386540

Summary Page Browse PDF–1.2M

Select item 30502320.

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.

D P Kelly, J J Kim, J J Billadello, B E Hainline, T W Chu, A W Strauss

Proc Natl Acad Sci U S A. 1987 Jun; 84(12): 4068–4072. doi: 10.1073/pnas.84.12.4068

PMCID:: PMC305023

Summary Page Browse PDF–1.1M

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