PMC Articles for MedGen (Select 766992) - PMC

Select item 105927551.

Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency

Laura Ohl, Amanda Kuhs, Ryan Pluck, Emily Durham, Michael Noji, Nathan D Philip, Zoltan Arany, Rebecca C Ahrens-Nicklas

Version 1. bioRxiv. Preprint. 2023 Oct 12. doi: 10.1101/2023.10.12.560929

Published in:: Mol Genet Metab Rep. 2024 Jun; 39: 101091.

PMCID:: PMC10592755

Abstract Article

Select item 88784892.

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray

Int J Mol Sci. 2022 Feb; 23(4): 2253. Published online 2022 Feb 18. doi: 10.3390/ijms23042253

PMCID:: PMC8878489

Abstract Article PDF–12M

Select item 48042263.

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

I. Bravo-Alonso, A. Oyarzabal, M. Sánchez-Aragó, M.T. Rejas, B. Merinero, A. García-Cazorla, R. Artuch, M. Ugarte, P. Rodríguez-Pombo

Data Brief. 2016 Jun; 7: 755–759. Published online 2016 Mar 15. doi: 10.1016/j.dib.2016.03.038

PMCID:: PMC4804226

Abstract Article PDF–413K

Select item 112582764.

MAZ-mediated up-regulation of BCKDK reprograms glucose metabolism and promotes growth by regulating glucose-6-phosphate dehydrogenase stability in triple-negative breast cancer

Yan Li, Yuxiang Lin, Yali Tang, Meichen Jiang, Xiaobin Chen, Hanxi Chen, Qian Nie, Jinqiao Wu, Xin Tong, Jing Li, Liuwen Yu, Jialin Hou, Wenhui Guo, Lili Chen, Minyan Chen, Jie Zhang, Shuhai Lin, Fangmeng Fu, Chuan Wang

Cell Death Dis. 2024 Jul; 15(7): 516. Published online 2024 Jul 18. doi: 10.1038/s41419-024-06835-y

PMCID:: PMC11258276

Abstract Article PDF–6.0M

Select item 74690055.

BDK Deficiency in Cerebral Cortex Neurons Causes Neurological Abnormalities and Affects Endurance Capacity

Anna Mizusawa, Ayako Watanabe, Minori Yamada, Rina Kamei, Yoshiharu Shimomura, Yasuyuki Kitaura

Nutrients. 2020 Aug; 12(8): 2267. Published online 2020 Jul 29. doi: 10.3390/nu12082267

PMCID:: PMC7469005

Abstract Article PDF–1008K

Select item 67026396.

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

Abstract Article PDF–2.3M

Select item 55154317.

Endurance performance and energy metabolism during exercise in mice with a muscle-specific defect in the control of branched-chain amino acid catabolism

Minjun Xu, Yasuyuki Kitaura, Takuya Ishikawa, Yoshihiro Kadota, Chihaya Terai, Daichi Shindo, Takashi Morioka, Miki Ota, Yukako Morishita, Kengo Ishihara, Yoshiharu Shimomura

PLoS One. 2017; 12(7): e0180989. Published online 2017 Jul 18. doi: 10.1371/journal.pone.0180989

PMCID:: PMC5515431

Abstract Article PDF–3.0M

Select item 52097468.

Muscle-specific deletion of BDK amplifies loss of myofibrillar protein during protein undernutrition

Takuya Ishikawa, Yasuyuki Kitaura, Yoshihiro Kadota, Yukako Morishita, Miki Ota, Fumiya Yamanaka, Minjun Xu, Masahito Ikawa, Naokazu Inoue, Fuminori Kawano, Naoya Nakai, Taro Murakami, Shinji Miura, Yukino Hatazawa, Yasutomi Kamei, Yoshiharu Shimomura

Sci Rep. 2017; 7: 39825. Published online 2017 Jan 4. doi: 10.1038/srep39825

PMCID:: PMC5209746

Abstract Article PDF–1.2M

Select item 38294359.

General Control Nonderepressible 2 (GCN2) Kinase Protects Oligodendrocytes and White Matter during Branched-chain Amino Acid Deficiency in Mice

Pengxiang She, Piyawan Bunpo, Judy K. Cundiff, Ronald C. Wek, Robert A. Harris, Tracy G. Anthony

J Biol Chem. 2013 Oct 25; 288(43): 31250–31260. Published online 2013 Sep 9. doi: 10.1074/jbc.M113.498469

PMCID:: PMC3829435

Abstract Article PDF–1.4M

Select item 370416510.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A. Meguid, Eric M. Scott, Jana Schroth, Jennifer L. Silhavy, Majdi Kara, Rehab O. Khalil, Tawfeg Ben-Omran, A. Gulhan Ercan-Sencicek, Adel F. Hashish, Stephan J. Sanders, Abha R. Gupta, Hebatalla S. Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, Joseph G. Gleeson

Science. Author manuscript; available in PMC 2013 Jul 8.

Published in final edited form as: Science. 2012 Oct 19; 338(6105): 394–397. Published online 2012 Sep 6. doi: 10.1126/science.1224631

PMCID:: PMC3704165

Abstract Article PDF–1.6M

Select item 340720411.

PDHK-2 Deficiency Is Associated with Attenuation of Lipase-Mediated Fat Consumption for the Increased Survival of Caenorhabditis elegans Dauers

Sunhee Kim, E-Jin Shin, Jeong-Hoon Hahm, Pil-Jong Park, Ji-Eun Hwang, Young-Ki Paik

PLoS One. 2012; 7(7): e41755. Published online 2012 Jul 27. doi: 10.1371/journal.pone.0041755

PMCID:: PMC3407204

Abstract Article PDF–595K

Select item 268911112.

Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells

Gang Lu, Haipeng Sun, Pengxiang She, Ji-Youn Youn, Sarah Warburton, Peipei Ping, Thomas M. Vondriska, Hua Cai, Christopher J. Lynch, Yibin Wang

J Clin Invest. 2009 Jun 1; 119(6): 1678–1687. Published online 2009 May 1. doi: 10.1172/JCI38151

PMCID:: PMC2689111

Abstract Article PDF–2.0M

Select item 163544613.

Impaired growth and neurological abnormalities in branched-chain α-keto acid dehydrogenase kinase-deficient mice

Mandar A. Joshi, Nam Ho Jeoung, Mariko Obayashi, Eyas M. Hattab, Eric G. Brocken, Edward A. Liechty, Michael J. Kubek, Krishna M. Vattem, Ronald C. Wek, Robert A. Harris

Biochem J. 2006 Nov 15; 400(Pt 1): 153–162. Prepublished online 2006 Jul 28. Published online 2006 Oct 27. doi: 10.1042/BJ20060869

PMCID:: PMC1635446

Abstract Article PDF–377K

Select item 163544214.

The case for regulating indispensable amino acid metabolism: the branched-chain α-keto acid dehydrogenase kinase-knockout mouse

Susan M. Hutson

Biochem J. 2006 Nov 15; 400(Pt 1): e1. Published online 2006 Oct 27. doi: 10.1042/BJ20061506

PMCID:: PMC1635442

Abstract Article PDF–58K

Select item 113228615.

Developmental pattern of branched-chain 2-oxo acid dehydrogenase complex in rat liver and heart.

Y Zhao, S C Denne, R A Harris

Biochem J. 1993 Mar 1; 290(Pt 2): 395–399. doi: 10.1042/bj2900395

PMCID:: PMC1132286

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