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49 results

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Integrative bioinformatics analysis for identifying the mitochondrial-related gene signature associated with immune infiltration in premature ovarian insufficiency.
Lu M, Li W, Zhou J, Shang J, Lin L, Liu Y, Zhu X. Lu M, et al. BMC Med. 2024 Oct 8;22(1):444. doi: 10.1186/s12916-024-03675-7. BMC Med. 2024. PMID: 39379953 Free PMC article.
RESULTS: A total of 119 mitochondria-related differentially expressed genes (MitoDEGs) were identified and shown to be significantly enriched in metabolic pathways. Among these genes, Hadhb, Cpt1a, Mrpl12, and Mrps7 were confirmed both in a POI model and in human granulosa …
RESULTS: A total of 119 mitochondria-related differentially expressed genes (MitoDEGs) were identified and shown to be significantly enriche …
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Liu ZR, Dong HL, Ma Y, Wu ZY. Liu ZR, et al. Mitochondrion. 2019 Nov;49:200-205. doi: 10.1016/j.mito.2019.09.004. Epub 2019 Sep 12. Mitochondrion. 2019. PMID: 31521624
Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder with several phenotypes. ...To date, only one Chinese patient harboring homozygous c. 739C>T (p.R247C) in HADHB has been reported. Here, using whole exome sequencin …
Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder with several phenotypes. ...To dat …
Identification of ACAA1 and HADHB as potential prognostic biomarkers based on a novel fatty acid oxidation-related gene model in head and neck squamous cell carcinoma: A retrospective study.
Wang WL, Jiang HJ, Shen ZL, Tang YL, Jiang J, Liang XH. Wang WL, et al. Arch Oral Biol. 2024 Jul;163:105982. doi: 10.1016/j.archoralbio.2024.105982. Epub 2024 Apr 24. Arch Oral Biol. 2024. PMID: 38678878
Ultimately, immunohistochemical staining showed that ACAA1 and HADHB were significantly under-expressed in HNSCC, with a favorable prognosis associated with low HADHB and high ACAA1. CONCLUSIONS: The gene prognostic model has illustrated promising capability in pred …
Ultimately, immunohistochemical staining showed that ACAA1 and HADHB were significantly under-expressed in HNSCC, with a favorable pr …
DNA demethylase TET2-mediated reduction of HADHB expression contributes to cadmium-induced malignant progression of colorectal cancer.
Li L, Jiang M, Wang W, Cao X, Ma Q, Han J, Liu Z, Huang Y, Chen Y. Li L, et al. Ecotoxicol Environ Saf. 2024 Jul 15;280:116579. doi: 10.1016/j.ecoenv.2024.116579. Epub 2024 Jun 11. Ecotoxicol Environ Saf. 2024. PMID: 38865940 Free article.
Furthermore, HADHB was found to play an important role in the Cd-induced malignant metastatic phenotype of CRC cells and lung metastasis in mice. Mechanistically, we discovered that chronic Cd exposure resulted in hypermethylation of the HADHB promoter region via in …
Furthermore, HADHB was found to play an important role in the Cd-induced malignant metastatic phenotype of CRC cells and lung metasta …
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. Zhu Y, et al. Clin Epigenetics. 2018 Mar 2;10:30. doi: 10.1186/s13148-018-0458-3. eCollection 2018. Clin Epigenetics. 2018. PMID: 29507648 Free PMC article.
After cross-matching genes containing DMRs or DhMRs with DEGs, we screened seven genes that were aberrantly regulated by DNA methylation in tumors. Furthermore, hypermethylation of the HADHB gene was persistently found to be correlated with downregulation of its transcript …
After cross-matching genes containing DMRs or DhMRs with DEGs, we screened seven genes that were aberrantly regulated by DNA methylation in …
Oxylipin metabolism is controlled by mitochondrial β-oxidation during bacterial inflammation.
Misheva M, Kotzamanis K, Davies LC, Tyrrell VJ, Rodrigues PRS, Benavides GA, Hinz C, Murphy RC, Kennedy P, Taylor PR, Rosas M, Jones SA, McLaren JE, Deshpande S, Andrews R, Schebb NH, Czubala MA, Gurney M, Aldrovandi M, Meckelmann SW, Ghazal P, Darley-Usmar V, White DA, O'Donnell VB. Misheva M, et al. Nat Commun. 2022 Jan 10;13(1):139. doi: 10.1038/s41467-021-27766-8. Nat Commun. 2022. PMID: 35013270 Free PMC article.
Testing for genetic control checkpoints, transcriptional interrogation of human neonatal sepsis finds upregulation of many genes involved in mitochondrial removal of long-chain fatty acyls, such as ACSL1,3,4, ACADVL, CPT1B, CPT2 and HADHB. Also, ACSL1/Acsl1 upregulation is …
Testing for genetic control checkpoints, transcriptional interrogation of human neonatal sepsis finds upregulation of many genes involved in …
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Shahrokhi M, Shafiei M, Galehdari H, Shariati G. Shahrokhi M, et al. Arch Iran Med. 2017 Jan;20(1):22-27. Arch Iran Med. 2017. PMID: 28112527
INTRODUCTION: Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of eight parts (subunits): four alpha-subunits containing LCEH (long-chain 2,3-enoyl-CoA hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and four beta-su …
INTRODUCTION: Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of eight parts (subunits): four alpha-sub …
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A. Diebold I, et al. Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22. Mol Cell Probes. 2019. PMID: 30682426
The heterooctameric mitochondrial trifunctional protein (MTP), composed of four alpha- and beta-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid beta-oxidation. Pathogenic variants in the MTP genes (HADHA and HADH …
The heterooctameric mitochondrial trifunctional protein (MTP), composed of four alpha- and beta-subunits harbours three enzyme …
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.
Dagher R, Massie R, Gentil BJ. Dagher R, et al. Mol Genet Metab. 2021 May;133(1):1-7. doi: 10.1016/j.ymgme.2021.03.010. Epub 2021 Mar 13. Mol Genet Metab. 2021. PMID: 33744096 Review.
Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency. MTP deficiency is a rare autosomal recessive disorder affecting long-chain fatty acid oxidation. ...This review aims to discuss the pathophysiological mechanisms and cli …
Mutations in the HADHB gene lead to Mitochondrial Trifunctional Protein (MTP) deficiency. MTP deficiency is a rare auto …
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E, Wang M, Szuminsky AJ, Ferraro L, Koppes E, Wang Y, Van't Land C, Mohsen AW, Zanatta G, El-Gharbawy AH, Anthonymuthu TS, Tyurina YY, Tyurin VA, Kagan V, Bayır H, Vockley J. Vieira Neto E, et al. JCI Insight. 2024 Sep 10;9(17):e176887. doi: 10.1172/jci.insight.176887. JCI Insight. 2024. PMID: 39088276 Free PMC article.
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty acid beta-oxidation. Mutations in HADHA and HADHB, which encode the TFP alpha and beta subunits, respectively, usually result in com …
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty …
49 results