Results 11 to 20 of about 4,222 (186)

Modulation of copper homeostasis and cuproptosis by PDHA1 in acute myeloid leukemia. [PDF]

Discov Oncol
Background Acute myeloid leukemia (AML) is an aggressive malignancy with poor prognosis. Recent studies highlight cuproptosis, a copper-dependent cell death mechanism, as a potential therapeutic target in cancers.
Chen T, Wei N, Lv W, Qu L, Qu Q, Wu C, Ling Y, Liu H, Liu H.   +8 more
europepmc   +5 more sources

RNF4 mediated degradation of PDHA1 promotes colorectal cancer metabolism and metastasis

npj Precision Oncology
This study investigates the role of RNF4-mediated ubiquitination and degradation of PDHA1 in colorectal cancer (CRC) metabolism and metastasis. Integrating (The Cancer Genome Atlas) TCGA and Clinical Proteomic Tumor Analysis Consortium (CPTAC) databases,
Jierong Chen, Zi-Yue Li, Guansheng Zheng, Lixue Cao, Yun-Miao Guo, Qizhou Lian, Bing Gu, Cai-Feng Yue   +7 more
doaj   +4 more sources

Cholangiocarcinoma PDHA1 succinylation suppresses macrophage antigen presentation via alpha-ketoglutaric acid accumulation. [PDF]

Nat Commun
Gemcitabine combined with cisplatin is the first-line chemotherapy for advanced cholangiocarcinoma, but drug resistance remains a challenge, leading to unsatisfactory therapeutic effect.
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.   +23 more
europepmc   +3 more sources

SIRT3 elicited an anti‐Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis [PDF]

Cancer Medicine, 2019
Cholangiocarcinoma (CCA) is an extremely invasive malignancy with late diagnosis and unfavorable prognosis. Surgery and chemotherapy are still not effective in improving outcomes in CCA patients.
Lei Xu, Yang Li, Lixing Zhou, Robert Gregory Dorfman, Li Liu, Rui Cai, Chenfei Jiang, Dehua Tang, Yuming Wang, Xiaoping Zou, Lei Wang, Mingming Zhang   +11 more
doaj   +4 more sources

Females with PDHA1 gene mutations: A diagnostic challenge [PDF]

Mitochondrion, 2006
Biochemical analysis was performed in muscle tissue and in fibroblasts of four unrelated females consecutively diagnosed with a 'de novo' point mutation in the PDHA1 gene. Pyruvate dehydrogenase E1 subunit deficiency was confirmed in the muscle sample of all patients, however, in three out of four cases the activity of the pyruvate dehydrogenase ...
Willemsen, M.A.A.P., Rodenburg, R.J.T., Teszas, A., Heuvel, L.P.W.J. van den, Kosztolanyi, G.Y., Morava, E.   +5 more
openaire   +4 more sources

Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1

Biochemistry, 2023
Nonalcoholic fatty liver disease (NAFLD) is substantiated by the reprogramming of liver metabolic pathways that disrupts the homeostasis of lipid and glucose metabolism and thus promotes the progression of the disease. The metabolic pathways associated with NAFLD are regulated at different levels from gene transcription to various post-translational ...
Kangli Peng, Shirong Wang, Ruochuan Liu, Li Zhou, Geon H. Jeong, In Ho Jeong, Xianpeng Liu, Hiroaki Kiyokawa, Bingzhong Xue, Bo Zhao, Hang Shi, Jun Yin   +11 more
core   +4 more sources

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair [PDF]

Human Genetics, 2019
Abstract Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity in heterozygous females.
Alejandro Horga, Catherine E. Woodward, Alberto Mills, Isabel Pareés, Iain P. Hargreaves, Ruth M. Brown, Enrico Bugiardini, Tony Brooks, Andreea Manole, Elena Remzova, Shamima Rahman, Mary M. Reilly, Henry Houlden, Mary G. Sweeney, Garry K. Brown, James M. Polke, Federico Gago, Matthew J. Parton, Robert D. S. Pitceathly, Michael G. Hanna   +19 more
core   +9 more sources

Artificial intelligence reveals dysregulation of osteosarcoma and cuproptosis-related biomarkers, PDHA1, CDKN2A and neutrophils

Scientific Reports, 2023
At present, the impact of cuproptosis-related genes in the study of osteosarcoma is largely unknown. Genome-wide data of osteosarcoma and controls were downloaded from 3 different databases, and specific diagnostic models associated with cuproptosis in ...
Jie Jiang, Xinli Zhan, Jianxun Wei, Qie Fan, Haowen Li, Hao Li, Shuzhen Li, Yong Zhao, Guodong Yin, Lin Tang, Yongxiang Wu, Mindong Lan, Yijue Qin, Quan Guo, Weicheng Xu, Ling Lu, Yanwei Yang, Yitian Zhang, Haishun Qu   +18 more
doaj   +3 more sources

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

Human Genetics, 2008
Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency. Mutation in the PDHA1 gene was suggested by a mosaic pattern of E1alpha subunit immunostaining; however, initial screening of cDNA and the exons and intron-exon boundaries yielded only normal sequence ...
Ridout, C, Brown, R, Walter, J, Brown, G
openaire   +3 more sources

PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation

Cell Death and Disease, 2023
The increase of lactate is an independent risk factor for patients with sepsis-induced acute kidney injury (SAKI). However, whether elevated lactate directly promotes SAKI and its mechanism remain unclear.
Sheng An, Yi Yao, Hongbin Hu, Junjie Wu, Jiaxin Li, Lulan Li, Jie Wu, Maomao Sun, Zhiya Deng, Yaoyuan Zhang, Shenhai Gong, Qiaobing Huang, Zhongqing Chen, Zhenhua Zeng   +13 more
doaj   +2 more sources