Results 21 to 30 of about 4,046 (167)

Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. [PDF]

PLoS ONE, 2010
ObjectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps.
Thomas Paccalet, Zoé Coulombe, Jacques P Tremblay   +2 more
doaj   +1 more source

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 is involved in the early development of skeletal and cardiac muscle. [PDF]

PLoS ONE, 2011
UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamime kinase (GNE) is a bifunctional enzyme which catalyzes the two key sequential steps in the biosynthetic pathway of sialic acid, the most abundant terminal monosaccharide on glycoconjugates of ...
Irit Milman Krentsis, Ilan Sela, Rachel Eiges, Véronique Blanchard, Markus Berger, Michal Becker Cohen, Stella Mitrani-Rosenbaum   +6 more
doaj   +1 more source

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

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

PLoS ONE, 2008
BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum   +7 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