Results 21 to 30 of about 6,315 (194)

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression [PDF]

Cells
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 acid ...
Carolin T. Neu, Aristotelis Antonopoulos, Anne Dell, Stuart M. Haslam, Rüdiger Horstkorte   +4 more
doaj   +2 more sources

Muscle imaging findings in GNE myopathy

Journal of Neurology, 2012
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon ...
Tasca, Giorgio, Ricci, Enzo, Monforte, Mauro, Laschena, F, Ottaviani, Pierfrancesco, Rodolico, C, Barca, E, Silvestri, Gabriella, Iannaccone, Elisabetta, Mirabella, Massimiliano, Broccolini, Aldobrando   +10 more
core   +5 more sources

GNE myopathy (Nonaka myopathy)

Анналы клинической и экспериментальной неврологии, 2019
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya, Alena L. Chukhrova, Oksana P. Ryzhkova   +2 more
doaj   +3 more sources

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery & Psychiatry, 2013
GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
openaire   +3 more sources

GNE-235: A Lead Compound Selective for the Second Bromodomain of PBRM1

, 2023
Bromodomains are acetyl-lysine binding modules that are found in different classes of chromatin-interacting proteins. Among these are large chromatin remodeling complexes such as BAF and PBAF (variants of human SWI/SNF).
Andrea G. Cochran (2360665), Megan Flynn (9680376)   +1 more
core   +4 more sources

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population

Orphanet Journal of Rare Diseases
Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a
Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang   +9 more
doaj   +3 more sources

Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances [PDF]

Annals of Indian Academy of Neurology
GNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decreased production
Wakako Yoshioka, Satoru Noguchi, Ichizo Nishino   +2 more
doaj   +2 more sources

Inhibitory Effects of Grapefruit Seed Extract and Its Nanoemulsion on Biofilm Formation of Escherichia coli and Staphylococcus aureus [PDF]

Shipin Kexue, 2023
Purpose: To investigate the inhibitory effects of grapefruit seed extract (GSE) and its nanoemulsion (GNE) on biofilm formation of Escherichia coli and Staphylococcus aureus.
WANG Siqi, LIANG Xiaoyun, ZHANG Chen, ZHANG Wendong, CHENG Yu, MI Xiaoyu, ZHAO Wangchen, WANG Longfeng, JIANG Yun
doaj   +1 more source

GNE-493 inhibits prostate cancer cell growth via Akt-mTOR-dependent and -independent mechanisms

Cell Death Discovery, 2022
GNE-493 is a novel PI3K/mTOR dual inhibitor with improved metabolic stability, oral bioavailability, and excellent pharmacokinetic parameters. Here GNE-493 potently inhibited viability, proliferation, and migration in different primary and established ...
Lu Jin, Wei Zhang, Ming-Yu Yao, Ye Tian, Bo-xin Xue, Wei Tao   +5 more
doaj   +1 more source

Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. [PDF]

PLoS ONE, 2010
ObjectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps.
Thomas Paccalet, Zoé Coulombe, Jacques P Tremblay   +2 more
doaj   +1 more source