Results 11 to 20 of about 4,046 (167)

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series [PDF]

Journal of Medical Case Reports
Background GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants ...
Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan   +4 more
doaj   +4 more sources

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

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   +4 more sources

Different electrophysiology patterns in GNE myopathy

Orphanet Journal of Rare Diseases, 2022
Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently.
Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu   +6 more
doaj   +3 more sources

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Scientific Reports, 2022
GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino   +16 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

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

In Vivo Assessment of dbDNA GNEwt/bi‐shRNA‐GNEM743T Lipoplex for GNE Myopathy: Improved Potency and Safety

The Journal of Gene Medicine, Volume 28, Issue 5, May 2026.
GNE myopathy is an autosomal recessive disorder causing progressive skeletal muscle degeneration in young adults and is linked to impaired sialic acid biosynthesis. Here, we demonstrate effective knockdown of GNEM743T mutant and robust GNEwt gene expression using a novel bishRNAi gene plasmid (above).
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
wiley   +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

GNE genotype explains 20% of phenotypic variability in GNE myopathy [PDF]

Neurology Genetics, 2019
To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries.Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H   +5 more
openaire   +3 more sources