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Select item 4337451.

NAD(P) Glycohydrolase Deficiency in Human Erythrocytes and Alteration of Cytosol NADH-Methemoglobin Diaphorase by Membrane NAD-Glycohydrolase Activity

Henri Frischer, Richard Nelson, Claudia Noyes, Paul E. Carson, James E. Bowman, Karl H. Rieckmann, Franco Ajmar

Proc Natl Acad Sci U S A. 1973 Aug; 70(8): 2406–2410. doi: 10.1073/pnas.70.8.2406

PMCID:: PMC433745

Summary Page Browse PDF–1.3M

Select item 102392052.

Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease

Jin-Ping Zhang, Zhi-Jun Zhu, Li-Ying Sun, Lin Wei, Wei Qu, Zhi-Gui Zeng, Hai-Ming Zhang, Ying Liu

Ann Transplant. 2023; 28: e939893-1–e939893-9. Prepublished online 2023 May 9. Published online 2023 May 30. doi: 10.12659/AOT.939893

PMCID:: PMC10239205

Article PDF–541K

Select item 100260303.

A short-chain acyl-CoA synthetase that supports branched-chain fatty acid synthesis in Staphylococcus aureus

Sarah G. Whaley, Matthew W. Frank, Charles O. Rock

J Biol Chem. 2023 Apr; 299(4): 103036. Published online 2023 Feb 16. doi: 10.1016/j.jbc.2023.103036

PMCID:: PMC10026030

Article PDF–2.4M

Select item 97613834.

Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)

Yoshihiro Ishikawa, Yuki Taga, Thibault Coste, Sara F. Tufa, Douglas R. Keene, Kazunori Mizuno, Elisabeth Tournier-Lasserve, Douglas B. Gould

J Biol Chem. 2022 Dec; 298(12): 102713. Published online 2022 Nov 17. doi: 10.1016/j.jbc.2022.102713

PMCID:: PMC9761383

Article PDF–2.6M

Select item 93321115.

Succinate dehydrogenase/complex II is critical for metabolic and epigenetic regulation of T cell proliferation and inflammation

Xuyong Chen, Benjamin Sunkel, Meng Wang, Siwen Kang, Tingting Wang, JN Rashida Gnanaprakasam, Lingling Liu, Teresa A. Cassel, David A. Scott, Ana M. Muñoz-Cabello, Jose Lopez-Barneo, Jun Yang, Andrew N. Lane, Gang Xin, Benjamin Stanton, Teresa W.-M. Fan, Ruoning Wang

Sci Immunol. Author manuscript; available in PMC 2022 Oct 29.

Published in final edited form as: Sci Immunol. 2022 Apr 29; 7(70): eabm8161. Published online 2022 Apr 29. doi: 10.1126/sciimmunol.abm8161

PMCID:: PMC9332111

Article PDF–3.6M

Select item 88636436.

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes

Jennifer H. Yang, Marisa W. Friederich, Katarzyna A. Ellsworth, Aliya Frederick, Emily Foreman, Denise Malicki, David Dimmock, Jerica Lenberg, Chitra Prasad, Andrea C. Yu, C. Anthony Rupar, Robert A. Hegele, Kandamurugu Manickam, Daniel C. Koboldt, Erin Crist, Samantha S. Choi, Sali M.K. Farhan, Helen Harvey, Shifteh Sattar, Natalya Karp, Terence Wong, Richard Haas, Johan L.K. Van Hove, Kristen Wigby

Hum Mutat. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: Hum Mutat. 2022 Mar; 43(3): 305–315. Published online 2022 Jan 19. doi: 10.1002/humu.24330

PMCID:: PMC8863643

Article PDF–359K

Select item 81721907.

Molecular basis of various forms of maple syrup urine disease in Chilean patients

Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva, Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo, Jr

Mol Genet Genomic Med. 2021 May; 9(5): e1616. Published online 2021 May 6. doi: 10.1002/mgg3.1616

PMCID:: PMC8172190

Article PDF–795K

Select item 80180218.

The novel P_II-interactor PirC identifies phosphoglycerate mutase as key control point of carbon storage metabolism in cyanobacteria

Tim Orthwein, Jörg Scholl, Philipp Spät, Stefan Lucius, Moritz Koch, Boris Macek, Martin Hagemann, Karl Forchhammer

Proc Natl Acad Sci U S A. 2021 Feb 9; 118(6): e2019988118. Published online 2021 Feb 1. doi: 10.1073/pnas.2019988118

PMCID:: PMC8018021

Article PDF–1.5M

Select item 79884979.

Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER

Yoshihiro Ishikawa, Yuki Taga, Keith Zientek, Nobuyo Mizuno, Antti M. Salo, Olesya Semenova, Sara F. Tufa, Douglas R. Keene, Paul Holden, Kazunori Mizuno, Douglas B. Gould, Johanna Myllyharju, Hans Peter Bächinger

J Biol Chem. 2021 Jan-Jun; 296: 100453. Published online 2021 Feb 23. doi: 10.1016/j.jbc.2021.100453

PMCID:: PMC7988497

Article PDF–4.4M

Select item 764795610.

A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease

Zheng Yie Yap, Klaudia Strucinska, Satoshi Matsuzaki, Sukyeong Lee, Yue Si, Kenneth Humphries, Mark A. Tarnopolsky, Wan Hee Yoon

J Inherit Metab Dis. Author manuscript; available in PMC 2021 Mar 26.

Published in final edited form as: J Inherit Metab Dis. 2021 Mar; 44(2): 388–400. Published online 2020 Jun 24. doi: 10.1002/jimd.12248

PMCID:: PMC7647956

Article PDF–813K

Select item 760368411.

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Ana Vitoria Barban Margutti, Wilson Araújo Silva, Jr., Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo, Jr.

Orphanet J Rare Dis. 2020; 15: 309. Published online 2020 Nov 1. doi: 10.1186/s13023-020-01590-7

PMCID:: PMC7603684

Article PDF–852K

Select item 751017512.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis, Melissa A Scott, Sergey Leikin, Elena Makareeva, Natalia V Kuznetsova, Kenneth N Rosenbaum, Cynthia J Tifft, Dorothy I Bulas, Chahira Kozma, Peter A Smith, David R Eyre, Joan C Marini

Nat Genet. Author manuscript; available in PMC 2020 Sep 23.

Published in final edited form as: Nat Genet. 2007 Mar; 39(3): 359–365. Published online 2007 Feb 4. doi: 10.1038/ng1968

PMCID:: PMC7510175

Article PDF–1.0M

Select item 747363813.

Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction

Hui-Ying Tsai, Shih-Cheng Wu, Jian-Chiuan Li, Yu-Min Chen, Chih-Chiang Chan, Chun-Hong Chen

Dis Model Mech. 2020 Aug 1; 13(8): dmm044750. Published online 2020 Aug 27. doi: 10.1242/dmm.044750

PMCID:: PMC7473638

Article

Select item 685000414.

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

Mei Yin Wong, Katrina A. Andrews, Benjamin G. Challis, Soo‐Mi Park, Carlo L. Acerini, Eamonn R. Maher, Ruth T. Casey

Clin Endocrinol (Oxf) 2019 Apr; 90(4): 499–505. Published online 2019 Jan 29. doi: 10.1111/cen.13926

PMCID:: PMC6850004

Article PDF–389K

Select item 676154515.

Metabolomics of Escherichia coli Treated with the Antimicrobial Carbon Monoxide-Releasing Molecule CORM-3 Reveals Tricarboxylic Acid Cycle as Major Target

Sandra M. Carvalho, Joana Marques, Carlos C. Romão, Lígia M. Saraiva

Antimicrob Agents Chemother. 2019 Oct; 63(10): e00643-19. Prepublished online 2019 Jul 22. Published online 2019 Sep 23. doi: 10.1128/AAC.00643-19

PMCID:: PMC6761545

Article PDF–3.1M

Select item 672993216.

Mitochondrial α-Ketoglutarate Dehydrogenase Complex Generates Reactive Oxygen Species

Anatoly A. Starkov, Gary Fiskum, Christos Chinopoulos, Beverly J. Lorenzo, Susan E. Browne, Mulchand S. Patel, M. Flint Beal

J Neurosci. 2004 Sep 8; 24(36): 7779–7788. doi: 10.1523/JNEUROSCI.1899-04.2004

PMCID:: PMC6729932

Article PDF–492K

Select item 670263917.

Targeting BCAA Catabolism to Treat Obesity-Associated Insulin Resistance

Meiyi Zhou, Jing Shao, Cheng-Yang Wu, Le Shu, Weibing Dong, Yunxia Liu, Mengping Chen, R. Max Wynn, Jiqiu Wang, Ji Wang, Wen-Jun Gui, Xiangbing Qi, Aldons J. Lusis, Zhaoping Li, Weiqing Wang, Guang Ning, Xia Yang, David T. Chuang, Yibin Wang, Haipeng Sun

Diabetes. 2019 Sep; 68(9): 1730–1746. Published online 2019 Aug 14. doi: 10.2337/db18-0927

PMCID:: PMC6702639

Article PDF–2.3M

Select item 660228118.

Cyclophilin B control of lysine post-translational modifications of skin type I collagen

Masahiko Terajima, Yuki Taga, Wayne A. Cabral, Ying Liu, Masako Nagasawa, Noriko Sumida, Yukako Kayashima, Prashant Chandrasekaran, Lin Han, Nobuyo Maeda, Irina Perdivara, Shunji Hattori, Joan C. Marini, Mitsuo Yamauchi

PLoS Genet. 2019 Jun; 15(6): e1008196. Published online 2019 Jun 7. doi: 10.1371/journal.pgen.1008196

PMCID:: PMC6602281

Article PDF–2.1M

Select item 644675019.

Branched-Chain Amino Acid Catabolism Impacts Triacylglycerol Homeostasis in Chlamydomonas reinhardtii

Yuanxue Liang, Fantao Kong, Ismael Torres-Romero, Adrien Burlacot, Stéphan Cuine, Bertrand Légeret, Emmanuelle Billon, Yariv Brotman, Saleh Alseekh, Alisdair R. Fernie, Fred Beisson, Gilles Peltier, Yonghua Li-Beisson

Plant Physiol. 2019 Apr; 179(4): 1502–1514. Published online 2019 Feb 6. doi: 10.1104/pp.18.01584

PMCID:: PMC6446750

Article PDF–1.3M

Select item 623597220.

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD⁺

Eligio F. Iannetti, Jan A. M. Smeitink, Peter H. G. M. Willems, Julien Beyrath, Werner J. H. Koopman

Cell Death Dis. 2018 Nov; 9(11): 1135. Published online 2018 Nov 14. doi: 10.1038/s41419-018-1179-4

PMCID:: PMC6235972

Article PDF–2.0M

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