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Page 1
Cholangiocarcinoma PDHA1 succinylation suppresses macrophage antigen presentation via alpha-ketoglutaric acid accumulation.
Zhang N, Sun L, Zhou S, Ji C, Cui T, Chu Q, Ye J, Liang S, Ma K, Liu Y, Li X, Guo X, Zhang W, Gu X, Cheng C, Zha Q, Tao S, Zhang Y, Chu J, Wu C, Zhang Y, Wang J, Liu Y, Liu L. Zhang N, et al. Nat Commun. 2025 Apr 3;16(1):3177. doi: 10.1038/s41467-025-58429-7. Nat Commun. 2025. PMID: 40180922 Free PMC article.
Our omics analysis reveals that succinylation of PDHA1 lysine 83, a key enzyme in the tricarboxylic acid cycle, alters PDH enzyme activity, modulates metabolic flux, and leads to alpha-ketoglutaric acid accumulation in the tumor microenvironment. This process activates the …
Our omics analysis reveals that succinylation of PDHA1 lysine 83, a key enzyme in the tricarboxylic acid cycle, alters PDH enzyme act …
Targeting macrophage polarization by inhibiting Pim2 alleviates inflammatory arthritis via metabolic reprogramming.
Xu X, Xu P, Shen G, Peng X, Liu Z, Chen C, Yu W, Su Z, Lin J, Zheng G, Ye G, Wang P, Xie Z, Wu Y, Shen H, Li J. Xu X, et al. Cell Mol Immunol. 2025 Apr;22(4):418-436. doi: 10.1038/s41423-025-01268-9. Epub 2025 Feb 26. Cell Mol Immunol. 2025. PMID: 40000906 Free PMC article.
Specifically, Pim2 directly phosphorylates PGK1-S203, PDHA1-S300, and PFKFB2-S466, thereby promoting glycolytic reprogramming. Pim2 expression was elevated in macrophages from patients with inflammatory arthritis and collagen-induced arthritis (CIA) model mice. ...
Specifically, Pim2 directly phosphorylates PGK1-S203, PDHA1-S300, and PFKFB2-S466, thereby promoting glycolytic reprogramming. Pim2 e …
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A. Hassan A. Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37008993 Free PMC article.
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2), GLUT-1, mitochondrial disorders (PDHA1, PDHX, ACO2), metabolic disorders (Maple syrup urine disease, Hartnup disease, ty …
EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SC …
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants accounted for 42% (heteroplasmy level 90% in 64%). ...Discriminating neuroimaging and/or clinical features were identified for MT-ATP6 (m.917 …
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants ac …
Interleukin-6 classic and trans-signaling utilize glucose metabolism reprogramming to achieve anti- or pro-inflammatory effects.
Xu S, Deng KQ, Lu C, Fu X, Zhu Q, Wan S, Zhang L, Huang Y, Nie L, Cai H, Wang Q, Zeng H, Zhang Y, Wang F, Ren H, Chen Y, Yan H, Xu K, Zhou L, Lu M, Zhu Y, Liu S, Lu Z. Xu S, et al. Metabolism. 2024 Jun;155:155832. doi: 10.1016/j.metabol.2024.155832. Epub 2024 Mar 2. Metabolism. 2024. PMID: 38438106
Classic IL-6 signaling promotes STAT3 translocation into mitochondria to interact with pyruvate dehydrogenase kinase-1 (PDK1), leading to pyruvate dehydrogenase alpha (PDHA) dissociation from PDK1. As a result, PDHA is dephosphorylated, and STAT3 is phosphorylated a …
Classic IL-6 signaling promotes STAT3 translocation into mitochondria to interact with pyruvate dehydrogenase kinase-1 (PDK1), leading to py …
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Gokçay GF, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Kasapkara ÇS, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, Hoytema van Konijnenburg E, Woidy M, Yaplito-Lee J, Yildiz Y, Z… See abstract for full author list ➔ Merkevicius K, et al. Brain. 2026 Jul 7;149(7):2344-2362. doi: 10.1093/brain/awaf430. Brain. 2026. PMID: 41239557 Free PMC article.
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicentre survey exploring genotypes, phenotypes and survival. ...We detected 331 different (118 unpublished) PDHA1 v …
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature …
PLK1-mediated PDHA1 phosphorylation drives metabolic reprogramming in lung cancer.
Peng J, Zhang Q, Rao X, Allison DB, Kong Y, Wang R, Liu J, Zhang Y, Katz W, Li Z, Liu X. Peng J, et al. Oncogene. 2025 Nov;44(43):4190-4204. doi: 10.1038/s41388-025-03571-1. Epub 2025 Sep 16. Oncogene. 2025. PMID: 40957950 Free PMC article.
In a companion study by Zhang et al., we demonstrated that PLK1 phosphorylation of PDHA1 at threonine 57 (PDHA1-T57) drives its protein degradation via mitophagy activation. Using a stable-isotope resolved metabolomics (SIRM) approach, we now show that PLK1 phosphor …
In a companion study by Zhang et al., we demonstrated that PLK1 phosphorylation of PDHA1 at threonine 57 (PDHA1-T57) drives it …
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T, Polavarapu K, Olimpio C, Paramonov I, Lochmüller H, Horvath R. Ferreira T, et al. J Neurol. 2024 Jun;271(6):3546-3553. doi: 10.1007/s00415-024-12319-y. Epub 2024 Mar 28. J Neurol. 2024. PMID: 38549004 Free PMC article.
We also detected heterozygous likely pathogenic variants in DNA2, MFN2, DNM2, PDHA1, SDHA, and UCHL1. Biallelic variants in SACS, SPG7, GDAP1, C12orf65, UCHL1, NDUFS6, ETFDH and DARS2 and variants in the mitochondrial DNA (mtDNA)-encoded MT-ATP6 and MT-TK were also causati …
We also detected heterozygous likely pathogenic variants in DNA2, MFN2, DNM2, PDHA1, SDHA, and UCHL1. Biallelic variants in SACS, SPG …
PDHA1 Orchestrates Hepatocellular Carcinoma Progression Through LINC00607-Mediated Regulation of Cuproptosis and Immune Evasion.
Lu L, Ma Y, Lu Y, Luo Z, Zhao Z, Ma J, Wang J. Lu L, et al. Dig Dis Sci. 2025 Nov;70(11):3730-3742. doi: 10.1007/s10620-025-09137-1. Epub 2025 Jun 18. Dig Dis Sci. 2025. PMID: 40533619
BACKGROUND: Pyruvate dehydrogenase E1 alpha 1 (PDHA1) is aberrantly expressed in hepatocellular carcinoma (HCC), but its molecular mechanisms in cancer progression remain incompletely understood. ...A novel physical interaction between PDHA1 and long n …
BACKGROUND: Pyruvate dehydrogenase E1 alpha 1 (PDHA1) is aberrantly expressed in hepatocellular carcinoma (HCC), but it …
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.
Olszewska DA, Shetty A, Rajalingam R, Rodriguez-Antiguedad J, Hamed M, Huang J, Breza M, Rasheed A, Bahr N, Madoev H, Westenberger A, Trinh J, Lohmann K, Klein C, Marras C, Waln O. Olszewska DA, et al. Eur J Neurol. 2023 Oct;30(10):3377-3393. doi: 10.1111/ene.15969. Epub 2023 Jul 17. Eur J Neurol. 2023. PMID: 37422902
EA is often caused by pathogenic variants in the CACNA1A, KCNA1, PDHA1, and SLC1A3 genes, listed as paroxysmal movement disorders (PxMD) by the MDS Task Force on the Nomenclature of Genetic Movement Disorders. ...RESULTS: Information on 717 patients (CACNA1A: 491, KCNA1: 1 …
EA is often caused by pathogenic variants in the CACNA1A, KCNA1, PDHA1, and SLC1A3 genes, listed as paroxysmal movement disorders (Px …
71 results