Results 121 to 130 of about 51,102 (238)

Identification of biomarkers for GNE myopathy

The FASEB Journal, 2012
GNE‐myopathy is an autosomal recessive disorder characterized by muscle atrophy and weakness, and accumulation of amyloid proteins and rimmed vacuoles in myofibers. This disease is secondary to mutations in the GNE gene, which encodes an essential enzyme in sialic acid biosynthesis. Recently,
May Christine Malicdan, Kazunari Momma, Ichizo Nishino, Satoru Noguchi   +3 more
openaire   +1 more source

Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment

Journal of Neuromuscular Diseases
Background: GNE Myopathy is a unique recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, caused by mutations in the GNE gene which is a key enzyme in the biosynthesis of sialic acid.
A. Harazi, L. Yakovlev, N. Ilouz, P. Selke, R. Horstkorte, Y. Fellig, Olga Lahat, T. Lifschytz, N. Abudi, R. Abramovitch, Zohar Argov, S. Mitrani-Rosenbaum   +11 more
semanticscholar   +1 more source

A Douglas-Rachford splitting for semi-decentralized equilibrium seeking in generalized aggregative games

, 2018
We address the generalized aggregative equilibrium seeking problem for noncooperative agents playing average aggregative games with affine coupling constraints.
Belgioioso, Giuseppe, Grammatico, Sergio
core   +1 more source

Supplementation of Nicotinic Acid with NAMPT Inhibitors Results in Loss of In Vivo Efficacy in NAPRT1-Deficient Tumor Models

Neoplasia: An International Journal for Oncology Research, 2013
Nicotinamide adenine dinucleotide (NAD) is a metabolite essential for cell survival and generated de novo from tryptophan or recycled from nicotinamide (NAM) through the nicotinamide phosphoribosyltransferase (NAMPT)-dependent salvage pathway ...
Thomas O'Brien, Jason Oeh, Yang Xiao, Xiaorong Liang, Alexander Vanderbilt, Ann Qin, Lulu Yang, Leslie B. Lee, Justin Ly, Ely Cosino, Jennifer A. LaCap, Annie Ogasawara, Simon Williams, Michelle Nannini, Bianca M. Liederer, Peter Jackson, Peter S. Dragovich, Deepak Sampath   +17 more
doaj   +1 more source

Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G＞C, p.V603L) over Four Decades after the Onset

Internal medicine
We encountered a 67-year-old Japanese man with GNE myopathy and homozygous variants (c.1807G＞C, p.V603L) of the GNE gene. The patient developed weakness in the left foot at 24 years old and could only move his wrist joints and hands 43 years after the ...
Kenji Sakai, Shota Yamada, Yo Higuchi, Ichizo Nishino   +3 more
semanticscholar   +1 more source

Disease Progression of GNE Myopathy and Its Relationship With Genotype

Neurology: Genetics
Background and Objectives Studies on the natural disease progression of detailed motor dysfunction in patients with GNE myopathy are rare. This study aimed to investigate motor function involvement during disease progression and its relationship with the
Haozhe Sun, Fu-ze Zheng, Jiaxi Yu, L. Meng, Qiang Gang, H. Lv, Wei Zhang, Yun Yuan, Meng Yu, Zhaoxia Wang   +9 more
semanticscholar   +1 more source

Gelatin Nanoemulsion-Based Co-Delivery of Terbinafine and Essential Oils for Treatment of Candida albicans Biofilms

Microorganisms
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.
Muhammad Aamir Hassan, Sadaf Noor, Jungmi Park, Ahmed Nabawy, Maitri Dedhiya, Robin Patel, Vincent M. Rotello   +6 more
doaj   +1 more source

Flavor decomposition of the nucleon electromagnetic form factors

, 2012
Background: The spatial distribution of charge and magnetization in the proton and neutron are encoded in the nucleon electromagnetic form factors. The form factors are all approximated by a simple dipole function, normalized to the charge or magnetic ...
Arrington, J., Qattan, I. A.
core   +1 more source

Myopathie GNE [PDF]

médecine/sciences, 2015
J. Andoni Urtizberea, Anthony Béhin
openaire   +1 more source

Once more on electromagnetic form factors of nucleons in extended vector meson dominance model

, 2009
Extended vector meson dominance model, that allows to describe the electromagnetic form factors of nucleons obeying the asymptotic quark counting rule prescriptions and contains the minimal number of free parameters, is presented. We get a reasonable fit
Faessler, Amand, Krivoruchenko, M. I., Martemyanov, B. V.   +2 more
core   +1 more source