Results 11 to 20 of about 4,568 (194)

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance [PDF]

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +2 more sources

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS ONE
ObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri, Suppakorn Yamutai, Pramot Tanutit, Jirakit Sattayapornpipat, Chariyawan Charalsawadi, Prut Koonalintip, Pornchai Sathirapanya, Suwanna Setthawatcharawanich, Rattana Leelawattana, Pat Korathanakhun   +9 more
doaj   +2 more sources

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

Absolute bioavailability and intravenous pharmacokinetics of N‐acetyl‐D‐mannosamine in humans [PDF]

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 488-494, February 2026.
Aims N‐acetyl‐D‐mannosamine monohydrate (ManNAc) is a naturally occurring monosaccharide that has attracted considerable attention for its potential in treating GNE myopathy, a rare autosomal recessive muscle disorder. Despite its promise as an oral treatment, the absolute bioavailability of oral ManNAc has not been determined and there has been no ...
Tahlia R. Meola, Guy Ludbrook, Gianfranco Fornasini, Olga Pavlova, Sumit Jain, Allan M. Evans, Stephanie E. Reuter   +6 more
wiley   +2 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

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   +2 more sources

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study [PDF]

BMC Musculoskeletal Disorders
Introduction GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the ...
Jinliang Deng, Ning Wang, Yuhao Wu, Ziyan Hao, Hongran Wu, Shaojuan Ma, Juyi Liu, Guang Ji, Xueqin Song   +8 more
doaj   +2 more sources

Mesenchymal Stem Cell‐Derived Extracellular Vesicles Modulate the Course of Peritoneal Inflammation Through Metabolic and Epigenetic Regulation [PDF]

Advanced Science, Volume 13, Issue 4, 19 January 2026.
MSC‐EVs alleviate peritoneal inflammation and fibrogenesis by disrupting the H3K18la‐CCL2 axis and crosstalk between mesothelial cells and Ly6c2⁺ macrophages. Model cartoons are constructed using the Biorender website (https://www.biorender.com/), and a usage license is obtained. Abstract Peritoneal dialysis (PD), as a renal replacement therapy, relies
Qiang Huang, Yuxiang Sun, Pengpeng Kuang, Juan Sun, Dandan Guo, Long Peng, Hu Zhou, Qinrong Song, Zhihao Huo, Canming Li, Janusz Witowski, Zhaoyong Hu, Hui Peng   +12 more
wiley   +2 more sources

Antitumor Activity of USP7 Inhibitor GNE-6776 in Non-Small Cell Lung Cancer Involves Regulation of Epithelial-Mesenchymal Transition, Cell Cycle, Wnt/β-Catenin, and PI3K/AKT/mTOR Pathways [PDF]

Pharmaceuticals
Objective: Non-small cell lung cancer (NSCLC) is a major cause of cancer-related deaths worldwide. This study investigated the effects and mechanisms of the USP7 inhibitor GNE-6776 on human NSCLC A549 and H1299 cells, providing insights for anti-NSCLC ...
Lipeng Wu, Long Lin, Meng Yu, Huajian Li, Yuanye Dang, Huosheng Liang, Guangyang Chen, Halimulati Muhetaer, Guodong Zheng, Jingjing Li, Xuejing Jia, Bo Wu, Chuwen Li   +12 more
doaj   +2 more sources

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

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   +2 more sources