Results 41 to 50 of about 3,856 (123)

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Molecular Genetics and Metabolism Reports, 2020
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman   +6 more
doaj   +1 more source

Metabolic profile in endothelial cells of chronic thromboembolic pulmonary hypertension and pulmonary arterial hypertension

Scientific Reports, 2022
Chronic thromboembolic pulmonary hypertension (CTEPH) and pulmonary arterial hypertension (PAH) are two forms of pulmonary hypertension (PH) characterized by obstructive vasculopathy. Endothelial dysfunction along with metabolic changes towards increased
V. F. E. D. Smolders, C. Rodríguez, I. Blanco, R. Szulcek, Wim Timens, L. Piccari, Y. Roger, X. Hu, Constanza Morén, C. Bonjoch, L. Sebastián, M. Castellà, J. Osorio, V. I. Peinado, Harm Jan Bogaard, P. H. A. Quax, M. Cascante, J. A. Barberà, O. Tura-Ceide   +18 more
doaj   +1 more source

A novel prognostic signature of cuproptosis-related genes and the prognostic value of FDX1 in gliomas

Frontiers in Genetics, 2022
Background: Gliomas are the most common malignant tumors of the central nervous system, with extremely bad prognoses. Cuproptosis is a novel form of regulated cell death. The impact of cuproptosis-related genes on glioma development has not been reported.
HuaXin Zhu, HuaXin Zhu, Qinsi Wan, Jiacong Tan, Jiacong Tan, Hengyang Ouyang, Xinyi Pan, MeiHua Li, YeYu Zhao   +8 more
doaj   +1 more source

Development and validation of cuproptosis-related genes in synovitis during osteoarthritis progress

Frontiers in Immunology, 2023
Osteoarthritis (OA) is one of the most common refractory degenerative joint diseases worldwide. Synovitis is believed to drive joint cartilage destruction during OA pathogenesis. Cuproptosis is a novel form of copper-induced cell death.
Bohan Chang, Zhehan Hu, Liang Chen, Zhuangzhuang Jin, Yue Yang   +4 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Telitacicept alleviates IgA nephropathy by targeting PDHA1 lactylation to inhibit B cell metabolic reprogramming and lactate-mediated renal injury

European Journal of Medical Research
Background Immunoglobulin A nephropathy (IgAN), the most common primary glomerulonephritis, is driven by galactose-deficient IgA1 (Gd-IgA1) production from autoreactive B cells.
Lu Xu, Jing-Jing Zhang, Wen-Ting Xu
doaj   +1 more source

ERN1 dependent impact of glutamine and glucose deprivations on the pyruvate dehydrogenase genes expression in glioma cells

Endocrine Regulations, 2022
Objective. The aim of the present study was to investigate the expression of pyruvate dehydrogenase genes such as PDHA1, PDHB, DLAT, DLD, and PDHX in U87 glioma cells in response to glutamine and glucose deprivations in control glioma cells and ...
Shatokhina Hanna O., Khita Olena O., Minchenko Dmytro O., Tsymbal Dariia O., Luzina Olha R., Danilovskyi Serhiy V., Sliusar Myroslava Y., Levadna Liudmyla O., Minchenko Oleksandr H.   +8 more
doaj   +1 more source

Pyruvate Dehydrogenase Contributes to Drug Resistance of Lung Cancer Cells Through Epithelial Mesenchymal Transition

Frontiers in Cell and Developmental Biology, 2022
Recently, there has been a growing interest on the role of mitochondria in metastatic cascade. Several reports have shown the preferential utilization of glycolytic pathway instead of mitochondrial respiration for energy production and the pyruvate ...
Buse Cevatemre, Buse Cevatemre, Engin Ulukaya, Egemen Dere, Sukru Dilege, Ceyda Acilan, Ceyda Acilan   +6 more
doaj   +1 more source

FDX1 Depletion Activates CD8+ T Cell Antitumor Immunity by Promoting DMBT1 Secretion in Cuproptosis of Colorectal Cancer

Cancer Science, EarlyView.
Elesclomol‐induced cuproptosis potently activates both innate and adaptive antitumor immunity, especially CD8+ T cell immunity. FDX1 serves as a central regulator of CD8+ T cell functionality through DMBT1 downregulation during cuproptosis in colorectal cancer.
Jieqiong Wu, Zaixi Lian, Mingzhou Li, Xingtu Qin, Xiaoyu Lei, Lihua Yang, Lin Bing, Qiuyue Li, Lingyan Zhou, Zhiyang Ma, Xuemei Xu, Jinghao Huang, Zilong Chen, Lijie Chen, Lingjie Zhang, Zhiyuan Xiao, Xiangyu Jian, Xiaoqin Zhang, Yanqing Ding, Yaping Ye, Li Liang, Hongli Jiao, Shuyang Wang   +22 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source