GNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic ac...
GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with G...
Endoscopic surgery is increasingly utilized for the treatment of early gastric cancer (EGC) worldwide, whereas lymph node metastasis (LNM) remains a critical risk factor for the relapse of EGC after endoscopic surgery. Therefore, identifying potentia...
GNE myopathy (GNEM) is a rare disease clinically characterized by progressive muscle atrophy and weakness. Besides the rare incidence of the disease, the limited preclinical models are among the major bottlenecks for a better pathophysiological under...
Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength. It is primarily associated with mutations i...
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-N-acetylglucosamine...
Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM). GNEM is an adult-ons...
This paper develops an algorithm for solving the generalized Nash equilibrium problem (GNEP) in non-cooperative games. The problem involves a set of players, each with a cost function that depends on their own decision as well as the decisions of oth...
Objective: Non-small cell lung cancer (NSCLC) is a major cause of cancer-related deaths worldwide. This study investigated the effects and mechanisms of the USP7 inhibitor GNE-6776 on human NSCLC A549 and H1299 cells, providing insights for anti-NSCL...
The GNE-associated V727M mutation is one of the most prevalent ethnic founder mutations in the Asian HIBM cohort; however, its role in inducing disease phenotype remains largely elusive. In this study, the function of this hotspot mutation was profou...
This paper proposes a distributed algorithm for games with shared coupling constraints based on the variational approach and the proximal-point algorithm. The paper demonstrates the effectiveness of the proximal-point algorithm in distributed computi...
In this article, a distributed charging strategy problem for plug-in electric vehicles (PEVs) with feeder constraints based on generalized Nash equilibria (GNE) in a novel smart charging station (SCS) is investigated. The purpose is to coordinate the...
The effects of the LDH-A depletion via shRNA knockdown on three murine glioma cell lines and corresponding intracranial (i.c.) tumors were studied and compared to pharmacologic (GNE-R-140) inhibition of the LDH enzyme complex, and to shRNA scrambled...
Estrogen receptor alpha (ER) is the oncogenic driver for ER+ breast cancer (BC). ER antagonists are the standard-of-care treatment for ER+ BC; however, primary and acquired resistance to these agents is common. CBP and p300 are critical ER co-activat...
As plug-in electric vehicles (PEVs) become more and more popular, there is a growing interest in the management of their charging power. Many models exist nowadays to manage the charging of plug-in electric vehicles, and it is important that these mo...
Fungal infections represent a significant global health challenge. Candida albicans is a particularly widespread pathogen, with both molecular and biofilm-based mechanisms making it resistant to or tolerant of available antifungal drugs. This study r...
The bi-functional enzyme UDP-N-acetyl-2-epimerase/N-acetylmannosamine kinase (GNE) is the key enzyme of the sialic acid biosynthesis. Sialic acids are negatively charged nine carbon amino sugars and are found on most glycoproteins and many glycolipid...
Studying consumers’ implicit emotions has been always described as a difficult and a complicated mission due to the emotions being of a non-cognitive nature. This research aims to develop a new method based on emotion-color association (ECA) to...
Patients with adult-onset Huntington’s Disease (AOHD) have been found to have dysfunction of the autonomic nervous system that is thought to be secondary to neurodegeneration causing dysfunction of the brain–heart axis. However, this rela...
This paper investigates the distributed computation issue of generalized Nash equilibrium (GNE) in a multi-player game with shared coupling constraints. Two kinds of relatively fast distributed algorithms are constructed with alternating inertia and...
Abnormal expression of miRNAs is associated with the occurrence and progression of cancer and other diseases, making miRNAs essential biomarkers for disease diagnosis and prognosis. However, the intrinsic properties of miRNAs, such as short length, l...
In the present study, the bioactive substance geraniol was tested in vitro and in planta against B. cinerea on cucumber plants, and the changes in the metabolic profile of cucumber plants inoculated with the pathogen and/or treated with geraniol were...
This paper introduces three artificial neural network (ANN) architectures for monthly streamflow forecasting: a radial basis function network, an extreme learning machine, and the Elman network. Three ensemble techniques, a simple average ensemble, a...
A number of aggressive human malignant tumors are characterized by an intensified glycolytic rate, over-expression of lactic acid dehydrogenase A (LDHA), and subsequent lactate accumulation, all of which contribute toward an acidic peri-cellular immu...
Proteolysis-Targeting Chimeras (PROTACs) are a promising new technology in drug development. They have rapidly evolved in recent years, with several of them in clinical trials. While most of these advances have been associated with monovalent protein...
Recently, there has been much attention paid to functionalized few-layer graphene (FFG) owing to its many biomedical applications, such as in bioimaging, biosensors, drug delivery, tissue scaffolds, nanocarriers, etc. Hence, the preparation of FFG ha...
Lung cancer is the second-most deadly malignancy worldwide, of which smoking is considered a major risk factor and causes 75–80% of lung cancer-related deaths. Costunolide (CTD) extracted from plant species Saussurea, Aucklandia, and Inula exhibits p...
The search for productive germplasm adapted to adverse conditions is an important action to mitigate the harmful effects of climate change. The aim was to identify the yield potential of 50 popcorn inbred lines grown in field conditions, in two crop...
Background: The assessment of voice quality can be evaluated perceptually with standard clinical practice, also including acoustic evaluation of digital voice recordings to validate and further interpret perceptual judgments. The goal of the present...
Reports of behavioral disturbance in Juvenile-Onset Huntington’s Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews. This study aims to quantify differences in behavior in patients...
28 May 2021
The study aimed to prepare green nanoemulsion (GNE) multi-components ((water/dimethyl sulfoxide–transcutol/isopropyl alcohol/capmul MCM C8 (CMC8)) to remove rifampicin (RIF) from a contaminated aqueous bulk solution. Pseudo ternary phase diagrams dic...
This paper proposes a charging strategy for plug-in electric vehicles (PEVs) in a smart charging station (SCS) that considers load constraints and time anxieties. Due to the rapidly growing load demand of PEVs and the load capacity investments in inf...
Protein glycosylation, including sialylation, involves complex and frequent post-translational modifications, which play a critical role in different biological processes. The conjugation of carbohydrate residues to specific molecules and receptors i...
USP7 is highly expressed in a variety of tumors and is thought to play a major role in cancer development. However, there are no drugs available to target USP7, so there is a need to develop new USP7 inhibitors. In this study, AutoQSAR, multiple line...
Orthodontic tooth movement (OTM) relies on mechanical force-induced bone remodeling. As a metabolic intermediate of glycolysis, lactate has recently been discovered to participate in bone remodeling by serving as a signaling molecule. However, whethe...
Insect salivary glands play an important role for host feeding, specifically by secreting salivary proteins for digestion and potentially modulating host defenses. Compared to other hemipterans, the significance of salivary glands is less studied in...
Clostridium perfringens is a Gram-positive, anaerobic, and spore forming bacterium that is widely distributed in the environment and one of the most common causes of foodborne illnesses. Bacteriophages are regarded as one of the most promising altern...
Water in heavy crude oil (W/O) emulsions, which are stubborn mixtures of immiscible heavy crude oil and brine, are a ubiquitous challenge in the petroleum industry. They cause serious corrosion problems, increase the viscosity of petroleum and make t...
The IDH1R132H mutation in glioma results in the neoenzymatic function of IDH1, leading to the production of the oncometabolite 2-hydroxyglutarate (2-HG), alterations in energy metabolism and changes in the cellular redox household. Although shifts in...
The heightened energetic demand increases lactate dehydrogenase (LDH) activity, the corresponding oncometabolite lactate, expression of heat shock proteins (HSPs) and thereby promotes therapy resistance in many malignant tumor cell types. Therefore,...
Background: Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene, with a rare juvenile-onset form (JoHD) marked by early, rigid motor symptoms. This study examined cortical and subcortical r...
In this paper, we have investigated the differences in the voices of Parkinson’s disease (PD) and age-matched control (CO) subjects when uttering three phonemes using two complexity measures: fractal dimension (FD) and normalised mutual informa...
Climate-change-induced thermal stress poses a significant threat to cold-adapted aquatic species, particularly fish endemic to high-altitude ecosystems such as Gymnocypris eckloni, which is native to the Qinghai-Tibetan Plateau. To elucidate the mole...