| HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma. | HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.
Sekine Y, Yamamoto K, Kurata M, Honda A, Onishi I, Kinowaki Y, Kawade G, Watabe S, Nomura S, Fukuda S, Ishibashi S, Ikeda M, Yamamoto M, Kitagawa M. | 04/23/2022 |
| MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations. | MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
Dagher R, Massie R, Gentil BJ. | 08/21/2021 |
| Targeting viperin to the mitochondrion inhibits the thiolase activity of the trifunctional enzyme complex. | Targeting viperin to the mitochondrion inhibits the thiolase activity of the trifunctional enzyme complex.
Dumbrepatil AB, Zegalia KA, Sajja K, Kennedy RT, Marsh ENG., Free PMC Article | 10/24/2020 |
| The current study broadens the genetic spectrum of HADHB and highlights the importance of screening fatty acid oxidation deficiency-related gene mutations among patients with intermittent rhabdomyolysis, as in the patient reported here, although extremely rare. | Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Liu ZR, Dong HL, Ma Y, Wu ZY. | 05/9/2020 |
| Results find that hypermethylation of HADHB gene was persistently correlated with downregulation of its transcription in colorectal cancer (CRC). Tumor functional analysis indicated that HADHB reduced CRC migration and invasiveness. | Integrated analyses of multi-omics reveal global patterns of methylation and hydroxymethylation and screen the tumor suppressive roles of HADHB in colorectal cancer.
Zhu Y, Lu H, Zhang D, Li M, Sun X, Wan L, Yu D, Tian Y, Jin H, Lin A, Gao F, Lai M., Free PMC Article | 03/2/2019 |
| Gene analysis identified two compound heterozygous mutations (c.184A>G/c.340A>G and c.488G>A/c.1175C>T, respectively) in the HADHB gene | HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Lu Y, Wu R, Meng L, Lv H, Liu J, Zuo Y, Zhang W, Yuan Y, Wang Z. | 01/5/2019 |
| Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA and HADHB mRNAs. | Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J. | 10/22/2016 |
| nonstructural protein 5 (NS5) interacted with hydroxyacyl-CoA dehydrogenase alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP) involved in LCFA beta-oxidation | Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid β-oxidation.
Kao YT, Chang BL, Liang JJ, Tsai HJ, Lee YL, Lin RJ, Lin YL., Free PMC Article | 02/13/2016 |
| Mutations in HADHB, which encodes the beta-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. | Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N. | 08/22/2015 |
| Heterozygous mutation in HADHB gene cause early-onset axonal axonal Charcot-Marie-tooth disease. | A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO., Free PMC Article | 04/12/2014 |
| The results demonstrated that ERbeta was indeed associated and colocalized with HADHB within mitochondria. | Estrogen receptor beta interacts and colocalizes with HADHB in mitochondria.
Zhou Z, Zhou J, Du Y., Free PMC Article | 03/9/2013 |
| HADHB is a functional molecular target of estrogen receptor alpha in the mitochondria, and the interaction may play an important role in the estrogen-mediated lipid metabolism in animals and humans. | Estrogen receptor alpha interacts with mitochondrial protein HADHB and affects beta-oxidation activity.
Zhou Z, Zhou J, Du Y., Free PMC Article | 11/3/2012 |
| mutational analysis of the HADHB gene, which encodes long-chain 3-ketoacyl-CoA thiolase, identified compound heterozygous mutations of c.520C>T (p.R141C) and c.1331G>A (p.R411K) in a case of mitochondrial trifunctional protein deficiency | A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M. | 03/17/2012 |
| Results emphasize the value of cDNA analysis in the characterization of HADHA and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP defects. | Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M. | 02/25/2012 |
| Recombinant mitochondrial trifunctional protein displayed 2-enoyl-CoA hydratase, l-3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activities. | Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.
Fould B, Garlatti V, Neumann E, Fenel D, Gaboriaud C, Arlaud GJ. | 01/29/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| The present findings showed that all missense mutations in HADHB were disease-causing. | Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S. | 02/8/2010 |
| The common disease causing mutation of G1528C in MTP gene in caucasian in probably not a common mutation in Chinese Han people in Beijing. | [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].
Wang R, Yang Z, Zhu JM, Wang JL, Yang HX, Wang Q, Zhai GR, Li Z, Yu M. | 01/21/2010 |
| Both alpha- and beta-subunit mutations result in TFP complex instability, demonstrating that the mechanism of disease is the same in alpha- or beta-mutation-derived disease and explaining the biochemical and clinical similarities. | General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. | 01/21/2010 |
| HADHB trifunctional enzyme, human renin, and poly(C)-binding protein are novel renin mRNA-binding proteins that target a cis-element in the 3'-UTR of renin mRNA and regulate renin production | HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin expression.
Adams DJ, Beveridge DJ, van der Weyden L, Mangs H, Leedman PJ, Morris BJ. | 01/21/2010 |