Results 61 to 70 of about 4,568 (194)

Experience with the Jungfrau‐1M detector at Diamond Light Source

Journal of Synchrotron Radiation, Volume 33, Issue 2, Page 331-343, March 2026.
A Jungfrau‐1M integrating detector was characterized at Diamond Light Source and found to be effective for recording macromolecular crystallography diffraction patterns. Parameters for operation and data collection were explored and characterized. The Diamond facility will be upgraded and integrating detectors, such as Jungfrau, will be used more ...
John Matheson, Danny Axford, Anna Bergamaschi, Maria Carulla, Nicholas Devenish, Noemi Frisina, Viktoria Hinger, Vadym Kedych, Christopher Lane, Aldo Mozzanica, Eva Gimenez-Navarro, James O'Hea, Dominic Oram, Robin L. Owen, David Perl, Adam Prescott, Bernd Schmitt, Shane Scully, Adam Taylor, Gary Yendell, Graeme Winter   +20 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

Optimal energy management of water networks under quality conditions

International Transactions in Operational Research, Volume 33, Issue 2, Page 926-951, March 2026.
Abstract In the context of sustainability, which has become fundamental today, we aim to optimize (reduce) the energy consumption due to the use of pumps that bring water from all the different reservoirs to the nodes of the distribution network. The proposed model allows us, thanks to the use of smart meters and new 5G technologies, to determine the ...
Gabriella Colajanni, Daniele Sciacca, Letizia Paone   +2 more
wiley   +1 more source

Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy

Molecular Genetics and Metabolism
Defects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM). This rare disorder is caused by mutations in the GNE gene that encodes for a bifunctional enzyme required for sialic acid biosynthesis, resulting in progressive muscle atrophy and weakness ...
Beatriz L, Pereira, Mariana, Barbosa, Pedro, Granjo, Hanns, Lochmüller, Paula A, Videira   +4 more
openaire   +2 more sources

NADH‐Reductive Stress Induced by Dihydrolipoamide Dehydrogenase Activation Contributes to Cuproptosis

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study demonstrates a cuproptosis mechanism involving nicotinamide adenine dinucleotide (NADH)‐reductive stress in neural cells. Copper activates dihydrolipoamide dehydrogenase under mitochondrial pH, accumulating NADH. Copper also induces mitochondrial permeability transition pore opening, facilitating NADH translocation to the cytosol and ...
Si‐Yi Zhang, Xing‐Hua Ren, Cheng‐Hong Zhang, Zhan‐You Wang   +3 more
wiley   +1 more source

Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.

JPMA. The Journal of the Pakistan Medical Association, 2021
GNE myopathy is an adult-onset muscle disorder featuring distal muscle atrophy and weakness. Rimmed vacuoles found in the muscle biopsies and gene mutations lead to the diagnosis of GNE myopathy. We collected clinical information, performed muscle biopsies and genetic testing on three patients.
Rui, Ban, Xianghui, Lu, Chuanqiang, Pu, Huifang, Wang, Huaxu, Liu, Yutong, Zhang, Qiang, Shi   +6 more
openaire   +1 more source

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

Нервно-мышечные болезни, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova   +6 more
doaj   +1 more source

4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease

Journal of Clinical and Translational Science, 2020
OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj   +1 more source

DNA methylation abnormalities induced by advanced maternal age in villi prime a high-risk state for spontaneous abortion

Clinical Epigenetics, 2023
Background Advanced maternal age (AMA) has increased in many high-income countries in recent decades. AMA is generally associated with a higher risk of various pregnancy complications, and the underlying molecular mechanisms are largely unknown.
Meng Qin, Wei Chen, Lingyue Hua, Yan Meng, Jing Wang, Hanna Li, Rui Yang, Liying Yan, Jie Qiao   +8 more
doaj   +1 more source

Distributed GNE-Seeking under Partial Information Based on Preconditioned Proximal-Point Algorithms [PDF]

, 2023
Zhongzheng Wang, Huaqing Li, Menggang Chen, Jialong Tang, Jingran Cheng, Yawei Shi   +5 more
openalex   +1 more source