PMC Articles for MedGen (Select 343006) - PMC

Select item 12756371.

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency

Barbara A. Binzak, Ron A. Wevers, Sytske H. Moolenaar, Yu-May Lee, Wuh-Liang Hwu, Jo Poggi-Bach, Udo F. H. Engelke, Heidi M. Hoard, Joseph G. Vockley, Jerry Vockley

Am J Hum Genet. 2001 Apr; 68(4): 839–847. Published online 2001 Feb 28. doi: 10.1086/319520

PMCID:: PMC1275637

Article PDF–463K

Select item 28283532.

Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R

R. P. McAndrew, J. Vockley, J.-J. P. Kim

J Inherit Metab Dis. Author manuscript; available in PMC 2010 Feb 24.

Published in final edited form as: J Inherit Metab Dis. 2008 Dec; 31(6): 761–768. Published online 2008 Oct 21. doi: 10.1007/s10545-008-0999-2

PMCID:: PMC2828353

Article PDF–990K

Select item 87471463.

Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice

Karen E. Christensen, Olga V. Malysheva, Stephanie Carlin, Fernando Matias, Amanda J. MacFarlane, René L. Jacobs, Marie A. Caudill, Rima Rozen

Nutrients. 2022 Jan; 14(1): 127. Published online 2021 Dec 28. doi: 10.3390/nu14010127

PMCID:: PMC8747146

Article PDF–2.0M

Select item 58274304.

Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein

Peter Augustin, Marina Toplak, Katharina Fuchs, Eva Christine Gerstmann, Ruth Prassl, Andreas Winkler, Peter Macheroux

J Biol Chem. 2018 Feb 23; 293(8): 2829–2840. Published online 2018 Jan 4. doi: 10.1074/jbc.RA117.000846

PMCID:: PMC5827430

Article PDF–2.8M

Select item 50825705.

Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease‐related H109R variant

Peter Augustin, Altijana Hromic, Tea Pavkov‐Keller, Karl Gruber, Peter Macheroux

FEBS J. 2016 Oct; 283(19): 3587–3603. Published online 2016 Oct 6. doi: 10.1111/febs.13828

PMCID:: PMC5082570

Article PDF–1.8M

Select item 46916676.

Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women

Jinyuan Mao, Jessica J Vanderlelie, Anthony V Perkins, Christopher WG Redman, Kourosh R Ahmadi, Margaret P Rayman

Am J Clin Nutr. 2016 Jan; 103(1): 100–106. Published online 2015 Dec 16. doi: 10.3945/ajcn.115.114231

PMCID:: PMC4691667

Article PDF–488K

Select item 45122197.

Dimethylglycine Deficiency and the Development of Diabetes

Martin Magnusson, Thomas J. Wang, Clary Clish, Gunnar Engström, Peter Nilsson, Robert E. Gerszten, Olle Melander

Diabetes. 2015 Aug; 64(8): 3010–3016. Published online 2015 Mar 20. doi: 10.2337/db14-1863

PMCID:: PMC4512219

Article PDF–699K

Select item 26621568.

Protection of Cardiomyocytes from Ischemic/Hypoxic Cell Death via Drbp1 and pMe₂GlyDH in Cardio-specific ARC Transgenic Mice

Jong-Ok Pyo, Jihoon Nah, Hyo-Jin Kim, Jae-Woong Chang, Young-Wha Song, Dong-Kwon Yang, Dong-Gyu Jo, Hyung-Ryong Kim, Han-Jung Chae, Soo-Wan Chae, Seung-Yong Hwang, Seung-Jun Kim, Hyo-Joon Kim, Chunghee Cho, Chang-Gyu Oh, Woo Jin Park, Yong-Keun Jung

J Biol Chem. 2008 Nov 7; 283(45): 30707–30714. doi: 10.1074/jbc.M804209200

PMCID:: PMC2662156

Article PDF–486K

Select item 35214609.

Reduced MTHFD1 Activity in Male Mice Perturbs Folate- and Choline-Dependent One-Carbon Metabolism as Well as Transsulfuration

Martha S. Field, Kelsey S. Shields, Elena V. Abarinov, Olga V. Malysheva, Robert H. Allen, Sally P. Stabler, Jessica A. Ash, Barbara J. Strupp, Patrick J. Stover, Marie A. Caudill

J Nutr. 2013 Jan; 143(1): 41–45. Published online 2012 Nov 28. doi: 10.3945/jn.112.169821

PMCID:: PMC3521460

Article PDF–506K

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