Results 81 to 90 of about 51,102 (238)

Role of IGF-1R in ameliorating apoptosis of GNE deficient cells

Scientific Reports, 2018
Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh, Priyanka Chaudhary, Ranjana Arya   +2 more
doaj   +1 more source

Introducing needs‐based epilepsy follow‐up: Patient satisfaction compared to standard of care follow‐up

Epileptic Disorders, Volume 28, Issue 2, Page 470-481, April 2026.
Abstract Background People with epilepsy have diverse healthcare needs, but limited resources make tailored management challenging. To allocate resources where they are most urgently required, we developed an openly available needs‐based follow‐up model.
Isak Birkeland, Eline Dahl‐Hansen, Marte Roa Syvertsen, Eivind Kolstad, Yvonne Myrtvedt Wollertsen, Atle Lillebø, Solveig Øvrebø, Elin Ese, Amund Leinaas, Nils Erik Gilhus, Marte Helene Bjørk   +10 more
wiley   +1 more source

GNE myopathy: from clinics and genetics to pathology and research strategies

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source

Long-term inhibition of mutant LRRK2 hyper-kinase activity reduced mouse brain α-synuclein oligomers without adverse effects

npj Parkinson's Disease, 2022
Parkinson’s disease (PD) is characterized by dopaminergic neurodegeneration in nigrostriatal and cortical brain regions associated with pathogenic α-synuclein (αSyn) aggregate/oligomer accumulation.
Philip Wing-Lok Ho, Eunice Eun-Seo Chang, Chi-Ting Leung, Huifang Liu, Yasine Malki, Shirley Yin-Yu Pang, Zoe Yuen-Kiu Choi, Yingmin Liang, Weng Seng Lai, Yuefei Ruan, Kenneth Mei-Yee Leung, Susan Yung, Judith Choi-Wo Mak, Michelle Hiu-Wai Kung, David B. Ramsden, Shu-Leong Ho   +15 more
doaj   +1 more source

Satisfaction Equilibrium: A General Framework for QoS Provisioning in Self-Configuring Networks

, 2010
This paper is concerned with the concept of equilibrium and quality of service (QoS) provisioning in self-configuring wireless networks with non-cooperative radio devices (RD).
Debbah, Merouane, Lasaulce, Samson, Perlaza, Samir M., Tembine, Hamidou   +3 more
core   +3 more sources

Effects of Immunoadsorption on Markers of Iron Metabolism: A Case Series

Journal of Clinical Apheresis, Volume 41, Issue 2, April 2026.
ABSTRACT Immunoadsorption selectively eliminates circulating antibodies in antibody‐mediated diseases. Iron deficiency is the most common cause of anemia; however, the potential role of immunoadsorption in contributing to iron depletion remains insufficiently established.
Noemi E. Ginthör, Tobias Niedrist, Gerold Schwantzer, Alexander H. Kirsch, Werner Ribitsch, Andras Deak, Michael Kolland, Daniel Leitinger, Kathrin Eller, Alexander R. Rosenkranz, Katharina Artinger   +10 more
wiley   +1 more source

Crystal structure of the N-acetylmannosamine kinase domain of GNE. [PDF]

PLoS ONE, 2009
UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy.
Yufeng Tong, Wolfram Tempel, Lyudmila Nedyalkova, Farrell Mackenzie, Hee-Won Park   +4 more
doaj   +1 more source

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

Human Mutation
GNE myopathy (GNEM) is a rare autosomal recessive disorder characterized by progressive skeletal muscle wasting starting in early adulthood. The prevalence of GNEM is estimated to range between one and nine cases per million individuals, but the accuracy
Alexa Derksen, Rachel Thompson, Madeeha Shaikh, S. Spendiff, Theodore J. Perkins, H. Lochmüller   +5 more
semanticscholar   +1 more source

Supervised Swin Transformer‐Based Predictive Lithological Mapping and Uncertainty Quantification Using Aeromagnetic and Gravity Data

Journal of Geophysical Research: Machine Learning and Computation, Volume 3, Issue 2, April 2026.
Abstract Lithological mapping is essential for the exploration of critical minerals supporting energy transition and national defense. Although recent advancements have incorporated multi‐source data sets and leveraged machine learning and deep learning (DL) methods, lithological mapping continues to face significant challenges, such as data imbalance,
Liang Ding, Gilles Bellefleur, Olivier Boulanger, Phuong Vo   +3 more
wiley   +1 more source

Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.

Thrombosis and Haemostasis, 2022
The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and ...
B. Zieger, D. Boeckelmann, W. Anani, H. Falet, Jieqing Zhu, H. Glonnegger, Hermann Full, F. Andresen, M. Erlacher, E. Lausch, S. Fels, B. Strahm, P. Lang, K. Hoffmeister   +13 more
semanticscholar   +1 more source