Results 101 to 110 of about 4,222 (186)

Analysis of cuproptosis-related genes in prognosis and immune infiltration in grade 4 diffuse gliomas

Heliyon
Background: Grade 4 diffuse gliomas are highly malignant tumours with poor prognosis. Cuproptosis is a novel form of cell death. Cuproptosis genes are associated with various tumours and affect the prognosis of patients with these tumours.
Hui Liu, Xin Bao, Zhirui Zeng, Wei Liu, Meifang Li   +4 more
doaj   +1 more source

The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency

Brain
Abstract This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals (45% unpublished) were included.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Huafang Jiang, Fang Fang, Tomohiro Ebihara, Kei Murayama, Giulia Ferrera, Anna Ardissone, Dariusz Rokicki, Dorota Wesol-Kucharska, Sabine Schröder, Peter Bauer, Aida Bertoli-Avella, Elsebeth Østergaard, Peter Freisinger, Mirian C H Janssen, Matias Wagner, Omar Abouyousef, Bader Alhaddad, Lama AlAbdi, Fowzan Alkuraya, Charlotte L Alston, Anna Baghdasaryan, Diana Barca, Ivo Barić, Marcello Bellusci, Andrea Bevot, Eugen Boltshauser, Ingo Borggraefe, Juliette Bouchereau, Claudio Bruno, Birute Burnyte, Amy Calhoun, Kari Casas, Mahmut Coker, Ellen Crushell, Pascal De Lonlay, Carlo Dionisi-Vici, Felix Distelmaier, Marni J Falk, Ana Cristina Ferreira, Carlos R Ferreira, Can Ficicioglu, Gulden Fatma Gokçay, Johannes Häberle, Oliver Heath, Albrecht Hellenschmidt, Julia Hoefele, Georg F Hoffmann, Tomas Honzik, Martina Huemer, Patrícia Janeiro, Amel Karaa, Çiğdem Seher Kasapkara, Ilse Kern, Joerg Klepper, Thomas Klopstock, Ina Knerr, Johannes Koch, Zita Krumina, Costanza Lamperti, Elise Lebigot, Zhimei Liu, Esther M Maier, Diego Martinelli, Robert McFarland, Bryce Mendelsohn, Maria Judits Molnar, Helen Mundy, Marie-Cecile Nassogne, Anabela Oliveira, Katrin Õunap, Chiara Panicucci, Sumit Parikh, Heidi Peters, Samia Pichard, Barbara Plecko, Danijela P Ramadža, Gabriela M Repetto, Isabel Rivera, Richard J Rodenburg, Alessandro Rossi, Manuel Schiff, Kathrin Seidemann, Wendy E Smith, Sérgia Soares, Barbara Siri, Katja Steinbrucker, Pasquale Striano, Jolanta Sykut-Cegielska, Galit Tal, Robert W Taylor, Kostas Tsiakas, Sema Kalkan Ucar, Eva Hoytema van Konijnenburg, Mathias Woidy, Joy Yaplito-Lee, Yilmaz Yildiz, Martin Zenker, Petra Zsidegh, Dominik Westphal, Wolfgang Sperl, Thomas Meitinger, Garry K Brown, Holger Prokisch, Johannes A Mayr, Saskia B Wortmann   +109 more
openaire   +2 more sources

PDHA1 gene knockout in prostate cancer cells results in metabolic reprogramming towards greater glutamine dependence

Oncotarget, 2016
Alternative pathways of metabolism endowed cancer cells with metabolic stress. Inhibiting the related compensatory pathways might achieve synergistic anticancer results. This study demonstrated that pyruvate dehydrogenase E1α gene knockout (PDHA1 KO) resulted in alterations in tumor cell metabolism by rendering the cells with increased expression of ...
Li, Yaqing, Li, Xiaoran, Li, Xiaoli, Zhong, Yali, Ji, Yasai, Yu, Dandan, Zhang, Mingzhi, Wen, Jian-Guo, Zhang, Hongquan, Goscinski, Mariusz Adam, Nesland, Jahn M., Suo, Zhenhe   +11 more
openaire   +3 more sources

A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. [PDF]

, 2006
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical
Ryu, KH, Hwang, JS, Lee, EH, Kim, SH, Ahn, MS, Kim, SJ   +5 more
core   +1 more source

Glucose‐Induced Developmental Dynamics: Understanding Male Prevalence in Early Mouse Embryo Stages

Reproductive Medicine and Biology
Purpose Glucose plays a critical role in early embryonic development, influencing metabolic dynamics and developmental competence in a sex‐specific manner.
Fikri Ardhani, Asako Okamoto, Masayuki Shimada   +2 more
doaj   +1 more source

The oncoprotein HBXIP promotes glucose metabolism reprogramming via downregulating SCO2 and PDHA1 in breast cancer

Oncotarget, 2015
The glucose metabolism reprogramming is a hallmark of cancer. The oncoprotein hepatitis B X-interacting protein (HBXIP) functions in the development of breast cancer. In this study, we supposed that HBXIP might be involved in the glucose metabolism reprogramming in breast cancer.
Fabao, Liu, Weiying, Zhang, Xiaona, You, Yunxia, Liu, Yinghui, Li, Zhen, Wang, Yue, Wang, Xiaodong, Zhang, Lihong, Ye   +8 more
openaire   +3 more sources

Oxygen-glucose deprivation preconditioning alleviates oxygen-glucose deprivation/reperfusion injury in PC12 cells by protecting mitochondria

陆军军医大学学报
Objective To investigate the protective effect of oxygen-glucose deprivation preconditioning (OGDPC) on PC12 cells damaged with oxygen-glucose deprivation/reperfusion (OGD/R) and its underlying mechanism.
HUANG Li, HUANG Li, XU Na, YANG Chaoxian
doaj   +1 more source

A cognitively normal PDH‐deficient 18‐year‐old man carrying the R263G mutation in the PDHA1 gene

, 2009
Pyruvate dehydrogenase (PDH) is a crucial multienzyme system linking glycolysis to the tricarboxylic acid cycle by catalysing the decarboxylation of pyruvate to acetyl‐CoA.
Merritt II, J Lawrence, Hahn, S H, Bachmann‐Gagescu, Ruxandra; https://orcid.org/   +2 more
core   +1 more source

Thiamin-responsive PDH deficiency due to a PDHA1 variant

Journal of Pediatric Neurosciences, 2018
Finsterer, Josef, Zarrouk-Mahjoub, Sinda
openaire   +3 more sources

PDHAI gene knockout in human esophageal squamous cancer cells resulted in greater warburg effect and aggressive features in vitro and in vivo

, 2019
Background: One of the remarkable metabolic characteristics of cancer cells is that they prefer glycolysis rather than oxidative phosphorylation (OXPHOS). Pyruvate dehydrogenase E1 alpha subunit (PDHA1) is an important prerequisite for OXPHOS.
Li, Huixiang, Liu, Lan, Cao, Jing, Zhao, Jing, Li, Xiangyu, Suo, Zhenhe   +5 more
core   +1 more source