Results 1 to 10 of about 296 (128)

Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in Cell and Developmental Biology, 2022
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Avi Harazi, Stella Mitrani-Rosenbaum, Mitrani-Rosenbaum Stella   +2 more
exaly   +3 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

In vivo and in vitro genome editing to explore GNE functions

Frontiers in Genome Editing, 2022
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Avi Harazi, Stella Mitrani-Rosenbaum, Mitrani-Rosenbaum Stella   +2 more
exaly   +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

GNE myopathy: History, etiology, and treatment trials

Frontiers in Neurology, 2022
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Tahseen Mozaffar
exaly   +3 more sources

Preclinical assessment of GNEwt/bi-shRNA-GNEM743T lipoplex product development for GNE myopathy

Future Science OA
Aims GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production.
Fabienne Kerneis, Christopher M Jay, Donald Rao, Jeremy Winchester, Alexander Nemunaitis, Emily Nemunaitis, Ernest Bognar, Gladice Wallraven, Laura Stanbery, Adam Walter, Sep Sarshar, John Nemunaitis   +11 more
doaj   +3 more sources

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

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   +3 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

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

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