Results 31 to 40 of about 5,472 (195)

Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells

Frontiers in Bioscience-Landmark, 2023
Background: A key mechanism in the neuromuscular disease GNE myopathy (GNEM) is believed to be that point mutations in the GNE gene impair sialic acid synthesis – maybe due to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) activity ...
Emilia Peters, Philipp Selke, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper   +4 more
doaj   +1 more source

BRD4 Inhibitor GNE-987 Exerts Anticancer Effects by Targeting Super-Enhancer-Related Gene LYL1 in Acute Myeloid Leukemia

Journal of Immunology Research, 2022
Background. AML (acute myeloid leukemia) is a common hematological malignancy in children with poor treatment effects and poor prognosis. Recent studies have shown that as a novel BRD4 (bromodomain containing 4) PROTACs (proteolysis targeting chimeras ...
Xu Sang, Yongping Zhang, Fang Fang, Li Gao, Yanfang Tao, Xiaolu Li, Zimu Zhang, Jianwei Wang, Yuanyuan Tian, Zhiheng Li, Di Yao, Yumeng Wu, Xinran Chu, Kunlong Zhang, Li Ma, Lihui Lu, Yanling Chen, Juanjuan Yu, Ran Zhuo, Shuiyan Wu, Zhen Zhang, Jian Pan, Shaoyan Hu   +22 more
doaj   +1 more source

The New PI3K/mTOR Inhibitor GNE-477 Inhibits the Malignant Behavior of Human Glioblastoma Cells

Frontiers in Pharmacology, 2021
The most common primary central nervous system tumor in adults is glioblastoma multiforme (GBM). The high invasiveness of GBM cells is an important factor leading to inevitable tumor recurrence and a poor prognosis of patients. GNE-477, a novel PI3K/mTOR
Yixuan Wang, Yixuan Wang, Heng Shen, Qian Sun, Qian Sun, Linyao Zhao, Linyao Zhao, Hao Liu, Hao Liu, Liguo Ye, Liguo Ye, Yang Xu, Yang Xu, Jiayang Cai, Jiayang Cai, Yuntao Li, Yuntao Li, Lun Gao, Lun Gao, Yinqiu Tan, Yinqiu Tan, Baohui Liu, Baohui Liu, Qianxue Chen, Qianxue Chen   +24 more
doaj   +1 more source

GNE-064: A Potent, Selective, and Orally Bioavailable Chemical Probe for the Bromodomains of SMARCA2 and SMARCA4 and the Fifth Bromodomain of PBRM1

, 2022
Bromodomains are acetyllysine recognition domains present in a variety of human proteins. Bromodomains also bind small molecules that compete with acetyllysine, and therefore bromodomains have been targets for drug discovery efforts.
Vickie Tsui (1947505), Nico Cantone (1417957), Shivangi Joshi (1398922), Florence Poy (240698), Christopher G. Nasveschuk (334912), Andrea G. Cochran (2360665), Hon-Ren Huang (2810848), Jeremy Murray (114312), Alexandre Côté (1398955), Yong Tang (161879), Adrianne Neiss (1398946), Lisa D. Belmont (13206442), Megan Flynn (9680376), Alexander M. Taylor (1398943), Richard Cummings (1822642), Yves Leblanc (1398952), Robert Campbell (1417933), Kevin DeMent (6725081), James E. Audia (1398949), Martin Duplessis (1763911), Steven F. Bellon (1637995), Steven R. Magnuson (1817026), Brian K. Albrecht (1398913), Chris Bailey (1920991), Andrew C. Good (1270980), Terry D. Crawford (1817035), Robert J. Sims (1417966), Peter Sandy (235034), F. Anthony Romero (2452198), Laura Zawadzke (2572627)   +29 more
core   +2 more sources

Myopathie GNE : [PDF]

médecine/sciences, 2017
Malgre un essai de phase II prometteur, l’acide sialique a liberation prolongee n’a pas confirme son efficacite sur une plus large population de patients. Une deception certaine, mais d’autres pistes therapeutiques restent ouvertes comme evoque lors des 23e Journees Neuromusculaires a Marseille les 6 et 7 septembre derniers.
Sylvie Marion, Anthony Béhin, Shahram Attarian   +2 more
openaire   +1 more source

Involving Stakeholders in the Implementation of Microservice-Based Systems: A Case Study in an Ambient-Assisted Living System

IEEE Access, 2021
Microservice-based systems promote agility and rapid business development. Some features, such as fast time-to-market, scalability and optimal response times, have encouraged stakeholders to get more involved in the development and implementation of ...
Gaston Marquez, Carla Taramasco, Hernan Astudillo, Vincent Zalc, Dan Istrate   +4 more
doaj   +1 more source

Mutation Update forGNEGene Variants Associated with GNE Myopathy [PDF]

Human Mutation, 2014
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not
Frank V, Celeste, Thierry, Vilboux, Carla, Ciccone, John Karl, de Dios, May Christine V, Malicdan, Petcharat, Leoyklang, John C, McKew, William A, Gahl, Nuria, Carrillo-Carrasco, Marjan, Huizing   +9 more
openaire   +2 more sources

An IMS LD Graphic Editor using the graphs representation for modifying the course structures

Journal of Interactive Media in Education, 2005
Commentary on: Chapter 20: Delivery of Learning Design: the Explor@ System?s Case. (Paquette, Marino, De la Teja, Léonard, & Lundgren-Cayrol, 2005) Abstract: We developed a Web portal, named netUniversité, that enables the teachers to create their ...
Ecaterina Giacomini Pacurar, Philippe Trigano, Cristian Zamfirescu   +2 more
doaj   +1 more source

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy [PDF]

Journal of Cellular and Molecular Medicine, 2018
AbstractGNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE).
Yuan Wu, Lamei Yuan, Yi Guo, Anjie Lu, Wen Zheng, Hongbo Xu, Yan Yang, Pengzhi Hu, Shaojuan Gu, Bingqi Wang, Hao Deng   +10 more
openaire   +2 more sources

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Haematologica, 2021
Not abstract ...
Bottega R., Marzollo A., Marinoni M., Athanasakis E., Persico I., Bianco A. M., Faleschini M., Valencic E., Simoncini D., Rossini L., Corsolini F., La Bianca M., Robustelli G., Gabelli M., Agosti M., Biffi A., Grotto P., Bozzi V., Noris P., Burlina A. B., d'Adamo A. P., Tommasini A., Faletra F., Pastore A., Savoia A.   +24 more
openaire   +6 more sources