Results 101 to 110 of about 6,315 (194)

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

The Gne M712T Mouse as a Model for Human Glomerulopathy

The American Journal of Pathology, 2012
Pathological glomerular hyposialylation has been implicated in certain unexplained glomerulopathies, including minimal change nephrosis, membranous glomerulonephritis, and IgA nephropathy. We studied our previously established mouse model carrying a homozygous mutation in the key enzyme of sialic acid biosynthesis, N-acetylglucosamine 2-epimerase/N ...
Kakani, Sravan, Yardeni, Tal, Poling, Justin, Ciccone, Carla, Niethamer, Terren, Klootwijk, Enriko D., Manoli, Irini, Darvish, Daniel, Hoogstraten-Miller, Shelley, Zerfas, Patricia, Tian, E., Ten Hagen, Kelly G., Kopp, Jeffrey B., Gahl, William A., Huizing, Marjan   +14 more
openaire   +2 more sources

Induction of GNE in Myofibers after Muscle Injury

, 2010
<i>Objective:</i> The aim of the present study was to clarify the expression of uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) protein and mRNA in damaged or regenerating myofibers.
Yasunori Higuchi, Yoshiyuki Tsukamoto, Kenichiro Nakamura, Shigeo Yokoyama, Toshihide Kumamoto, Shinji Yano, Naoki Hijiya, Masatsugu Moriyama   +7 more
core   +1 more source

Production of sialic acid affected by GNE gene mutations [PDF]

, 2011
Hereditary Inclusion Body Myopathy (HIBM) IS an autosomal recessive disorder characterized by adult onset muscle wasting affecting both proximal and distal muscles.
Shah, Ishita
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Evaluation of the Sialidase Inhibitor Oseltamivir in GNE-associated Thrombocytopenia

, 2021
Background: GNE encodes UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the rate limiting enzyme of sialic acid biosynthesis. Biallelic variants in GNE have recently been associated with severe isolated macrothrombocytopenia, attributed ...
Rossing, Maria, Leinoe, Eva, Zetterberg, Eva, Martin, Myriam, Blom, A.M., Fager Ferrari, Marcus, Ek, Torben, Smolag Klosowska, Karolina   +7 more
core   +1 more source

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

In Vivo Assessment of dbDNA GNE ^wt /bi‐shRNA‐GNE ^M743T Lipoplex for GNE Myopathy: Improved Potency and Safety

The Journal of Gene Medicine
ABSTRACT GNE myopathy is an autosomal recessive disease, associated with skeletal muscle deterioration, which afflicts young adults. GNE plays a pivotal role in sialic acid production. Sialic acid acts as a buffer against reactive oxygen species generated during muscle contraction.
Christopher M. Jay, Fabienne Kerneis, Donald Rao, Alexander Nemunaitis, Ernest Bognar, Gladice Wallraven, Laura Stanbery, Rebecca Lutz, Adam Walter, Sep Sarshar, John Nemunaitis   +10 more
openaire   +1 more source

Effects of mutated GNE^M712T on ST3Gal5 mRNA expression.

, 2013
A, Comparison of GNE mRNA levels between Gne+/+ (diamond) and GneM712T/M712T (square) mouse muscle determined by qRT-PCR (absolute values are expressed as the number of GNE mRNA copies/µg of total RNA).
Zoé Coulombe (365862), Jacques P. Tremblay (304709), Thomas Paccalet (222440)   +2 more
core   +1 more source

Comparative data about wild type C57Bl/6 GNE+/+ and heterozygous C57Bl/6 GNE+/− mice.

, 2013
±SD; range in parentheses; n.s., not significant. Data are meanGNE+/+ and C57Bl/6 GNE+/− at 24 weeks and at 80 weeks. There was no statistical difference between the parameters in C57Bl/6
Hans-Jürgen Holzhausen (495614), Joachim Weis (362221), Stephan Zierz (159096), Rüdiger Horstkorte (495616), Frank Hanisch (495610), Wenke Weidemann (495611), Pushpa Raj Joshi (495613), Mona Großmann (495612), Gisela Stoltenburg (495615)   +8 more
core   +1 more source

Noms des villes et noms des champs en -a(i)gne, -e(i)gne ou -o(i)gne : essai de grammaire onomastique

, 2014
Gabriel France. Noms des villes et noms des champs en -a(i)gne, -e(i)gne ou -o(i)gne : essai de grammaire onomastique. In: Noms des villes, noms des champs.
Gabriel, France
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