PMC Links for Gene (Select 3030) - PMC

Nivea Dias Amoedo, Saharnaz Sarlak, Emilie Obre, Pauline Esteves, Hugues Bégueret, Yann Kieffer, Benoît Rousseau, Alexis Dupis, Julien Izotte, Nadège Bellance, Laetitia Dard, Isabelle Redonnet-Vernhet, Giuseppe Punzi, Mariana Figueiredo Rodrigues, Elodie Dumon, Walid Mafhouf, Véronique Guyonnet-Dupérat, Lara Gales, Tony Palama, Floriant Bellvert, Nathalie Dugot-Senan, Stéphane Claverol, Jean-Marc Baste, Didier Lacombe, Hamid Reza Rezvani, Ciro Leonardo Pierri, Fatima Mechta-Grigoriou, Matthieu Thumerel, Rodrigue Rossignol

J Clin Invest. 2021 Jan 4; 131(1): e133081. Published online 2021 Jan 4. doi: 10.1172/JCI133081

PMCID:: PMC7773363

Abstract Article PDF–16M

Select item 56678394.

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

Bogusław Nedoszytko, Alicja Siemińska, Dominik Strapagiel, Sławomir Dąbrowski, Marcin Słomka, Marta Sobalska-Kwapis, Błażej Marciniak, Jolanta Wierzba, Jarosław Skokowski, Marcin Fijałkowski, Roman Nowicki, Leszek Kalinowski

PLoS One. 2017; 12(11): e0187365. Published online 2017 Nov 2. doi: 10.1371/journal.pone.0187365

PMCID:: PMC5667839

Abstract Article PDF–5.7M

Select item 44423975.

Hepatitis C Virus Attenuates Mitochondrial Lipid β-Oxidation by Downregulating Mitochondrial Trifunctional-Protein Expression

Yutaka Amako, Tsubasa Munakata, Michinori Kohara, Aleem Siddiqui, Chris Peers, Mark Harris

J Virol. 2015 Apr 15; 89(8): 4092–4101. Published online 2015 Feb 11. doi: 10.1128/JVI.01653-14

PMCID:: PMC4442397

Abstract Article PDF–1.5M

Select item 28929216.

EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY

Melanie B. Gillingham, Dietrich Matern, Cary O. Harding

Top Clin Nutr. Author manuscript; available in PMC 2010 Jun 28.

Published in final edited form as: Top Clin Nutr. 2009 Oct; 24(4): 359–365. doi: 10.1097/TIN.0b013e3181c62182

PMCID:: PMC2892921

Abstract Article PDF–336K

Select item 27815917.

Identification of the Human Mitochondrial Linoleoyl-coenzyme A Monolysocardiolipin Acyltransferase (MLCL AT-1)

William A. Taylor, Grant M. Hatch

J Biol Chem. 2009 Oct 30; 284(44): 30360–30371. Published online 2009 Sep 8. doi: 10.1074/jbc.M109.048322

PMCID:: PMC2781591

Abstract Article PDF–4.4M

Select item 5075198.

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

L IJlst, J P Ruiter, J M Hoovers, M E Jakobs, R J Wanders

J Clin Invest. 1996 Aug 15; 98(4): 1028–1033. doi: 10.1172/JCI118863

PMCID:: PMC507519

Summary PDF–246K

Select item 2957999.

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

J C Brackett, H F Sims, P Rinaldo, S Shapiro, C K Powell, M J Bennett, A W Strauss

J Clin Invest. 1995 May; 95(5): 2076–2082. doi: 10.1172/JCI117894

PMCID:: PMC295799

Summary Page Browse PDF–1.5M

Select item 700609610.

MiR-612 regulates invadopodia of hepatocellular carcinoma by HADHA-mediated lipid reprogramming

Yang Liu, Li-Li Lu, Duo Wen, Dong-Li Liu, Li-Li Dong, Dong-Mei Gao, Xin-Yu Bian, Jian Zhou, Jia Fan, Wei-Zhong Wu

J Hematol Oncol. 2020; 13: 12. Published online 2020 Feb 7. doi: 10.1186/s13045-019-0841-3

Correction in:: J Hematol Oncol. 2020; 13: 44.

PMCID:: PMC7006096

Abstract Article PDF–6.4M

Select item 644261311.

Crystal structure of human mitochondrial trifunctional protein, a fatty acid β-oxidation metabolon

Chuanwu Xia, Zhuji Fu, Kevin P. Battaile, Jung-Ja P. Kim

Proc Natl Acad Sci U S A. 2019 Mar 26; 116(13): 6069–6074. Published online 2019 Mar 8. doi: 10.1073/pnas.1816317116

PMCID:: PMC6442613

Abstract Article PDF–1.2M

Select item 614225712.

Cryo-EM structure of human mitochondrial trifunctional protein

Kai Liang, Ningning Li, Xiao Wang, Jianye Dai, Pulan Liu, Chu Wang, Xiao-Wei Chen, Ning Gao, Junyu Xiao

Proc Natl Acad Sci U S A. 2018 Jul 3; 115(27): 7039–7044. Published online 2018 Jun 18. doi: 10.1073/pnas.1801252115

PMCID:: PMC6142257

Abstract Article PDF–1.4M

Select item 581853113.

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Judith Hagenbuchner, Sabine Scholl-Buergi, Daniela Karall, Michael J. Ausserlechner

Sci Rep. 2018; 8: 3254. Published online 2018 Feb 19. doi: 10.1038/s41598-018-21519-2

PMCID:: PMC5818531

Abstract Article PDF–4.2M

Select item 349468814.

Human Trifunctional Protein Alpha Links Cardiolipin Remodeling to Beta-Oxidation

William A. Taylor, Edgard M. Mejia, Ryan W. Mitchell, Patrick C. Choy, Genevieve C. Sparagna, Grant M. Hatch

PLoS One. 2012; 7(11): e48628. Published online 2012 Nov 9. doi: 10.1371/journal.pone.0048628

PMCID:: PMC3494688

Abstract Article PDF–917K

Select item 50910215.

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

J A Ibdah, I Tein, C Dionisi-Vici, M J Bennett, L IJlst, B Gibson, R J Wanders, A W Strauss

J Clin Invest. 1998 Sep 15; 102(6): 1193–1199. doi: 10.1172/JCI2091

PMCID:: PMC509102

Summary PDF–312K

Select item 29423116.

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

T Kamijo, R J Wanders, J M Saudubray, T Aoyama, A Komiyama, T Hashimoto

J Clin Invest. 1994 Apr; 93(4): 1740–1747. doi: 10.1172/JCI117158

PMCID:: PMC294231

Summary Page Browse PDF–1.6M

Select item 4271617.

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

H F Sims, J C Brackett, C K Powell, W R Treem, D E Hale, M J Bennett, B Gibson, S Shapiro, A W Strauss

Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3): 841–845. doi: 10.1073/pnas.92.3.841

PMCID:: PMC42716

Summary Page Browse PDF–1.4M

Select item 1057573218.

Zfp335 establishes eTreg lineage and neonatal immune tolerance by targeting Hadha-mediated fatty acid oxidation

Xin Wang, Lina Sun, Biao Yang, Wenhua Li, Cangang Zhang, Xiaofeng Yang, Yae Sun, Xiaonan Shen, Yang Gao, Bomiao Ju, Yafeng Gao, Dan Liu, Jiapeng Song, Xiaoxuan Jia, Yanhong Su, Anjun Jiao, Haiyan Liu, Lianjun Zhang, Lan He, Lei Lei, WanJun Chen, Baojun Zhang

J Clin Invest. 2023 Oct 16; 133(20): e166628. Published online 2023 Oct 16. doi: 10.1172/JCI166628

PMCID:: PMC10575732

Abstract Article PDF–12M

Select item 437664819.

Japanese Encephalitis Virus Nonstructural Protein NS5 Interacts with Mitochondrial Trifunctional Protein and Impairs Fatty Acid β-Oxidation

Yu-Ting Kao, Bi-Lan Chang, Jian-Jong Liang, Hang-Jen Tsai, Yi-Ling Lee, Ren-Jye Lin, Yi-Ling Lin

PLoS Pathog. 2015 Mar; 11(3): e1004750. Published online 2015 Mar 27. doi: 10.1371/journal.ppat.1004750

PMCID:: PMC4376648

Abstract Article PDF–1.3M

Select item 726957220.

Cardioprotective GLP-1 metabolite prevents ischemic cardiac injury by inhibiting mitochondrial trifunctional protein-α

M. Ahsan Siraj, Dhanwantee Mundil, Sanja Beca, Abdul Momen, Eric A. Shikatani, Talat Afroze, Xuetao Sun, Ying Liu, Siavash Ghaffari, Warren Lee, Michael B. Wheeler, Gordon Keller, Peter Backx, Mansoor Husain

J Clin Invest. 2020 Mar 2; 130(3): 1392–1404. Published online 2020 Jan 27. doi: 10.1172/JCI99934

PMCID:: PMC7269572

Abstract Article PDF–1.4M

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