نتایج جستجو برای: gne
تعداد نتایج: 282 فیلتر نتایج به سال:
In this paper, we propose a distributed primal-dual algorithm for computation of a generalized Nash equilibrium (GNE) in noncooperative games over network systems. In the considered game, not only each player’s local objective function depends on other players’ decisions, but also the feasible decision sets of all the players are coupled together with a globally shared affine inequality constra...
BACKGROUND GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and (2) gain further insight into the disease for ...
The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in...
Hereditary inclusion-body myopathy (h-IBM), or distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with onset in early adult life and a progressive course leading to severe disability. h-IBM/DMRV is due to mutations of a gene (GNE) that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. Despite the identification of the causative gene defect, i...
INTRODUCTION Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most prevalent cause of familial and sporadic Parkinson's disease (PD). Because most pathogenic LRRK2 mutations result in enhanced kinase activity, it suggests that LRRK2 inhibitors may serve as a potential treatment for PD. To evaluate whether LRRK2 inhibitors are effective therapies for PD, it is crucial to know whether LR...
Checkpoint kinase 1 (ChK1) is a serine/threonine kinase that functions as a central mediator of the intra-S and G2-M cell-cycle checkpoints. Following DNA damage or replication stress, ChK1-mediated phosphorylation of downstream effectors delays cell-cycle progression so that the damaged genome can be repaired. As a therapeutic strategy, inhibition of ChK1 should potentiate the antitumor effect...
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 6...
Introduction Sialic acid (N-acetylneuraminic acid, NeuAc, Neu5Ac) is an essential terminal sugar on the glycan part of functional and structural human glycoproteins (Figure 1). The first committed intermediate in the biochemical process to form Neu5Ac is the monosaccharide, N-acetyl-Dmannosamine (ManNAc), which is formed by the bifunctional enzyme UDP-N-acetylglucosamine / N-acetylmannosamine e...
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