Results 21 to 30 of about 15,103 (215)

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

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

Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression [PDF]

Case Reports in Neurology, 2012
We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with
Yasuko Ikeda-Sakai, Yasuhiro Manabe, Daiki Fujii, Syoichiro Kono, Hisashi Narai, Nobuhiko Omori, Ichizo Nishino, Koji Abe   +7 more
doaj   +2 more sources

Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex [PDF]

Human Gene Therapy, 2011
Hereditary inclusion body myopathy (HIBM) is an autosomal recessive adult-onset myopathy due to mutations in the GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase) gene. Affected patients have no therapeutic options. We have previously demonstrated in preclinical testing the ability to safely correct GNE gene function through ...
Gregory Nemunaitis, Chris Jay, Phillip B. Maples, William A. Gahl, Marjan Huizing, Tal Yardeni, Alex W. Tong, Anagha P. Phadke, Beena O. Pappen, Cynthia Bedell, Henry Allen, Cathy Hernandez, Nancy Smyth Templeton, Joseph A. Kuhn, Neil Senzer, John Nemunaitis   +15 more
openalex   +4 more sources

The Mysterious Evolutionary Origin for the GNE Gene and the Root of Bilateria [PDF]

Molecular Biology and Evolution, 2011
Phylogenomic analyses have revealed several important metazoan clades, such as the Ecdysozoa and the Lophotrochozoa. However, the phylogenetic positions of a few taxa, such as ctenophores, chaetognaths, acoelomorphs, and Xenoturbella, remain contentious.
Alex de Mendoza, Iñaki Ruiz‐Trillo
openalex   +3 more sources

GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]

Molecular Genetics and Metabolism Reports
GNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj   +2 more sources

BRD4 Inhibitor GNE-987 Exerts Anticancer Effects by Targeting Super-Enhancer-Related Gene LYL1 in Acute Myeloid Leukemia [PDF]

Journal of Immunology Research, 2022
Background. AML (acute myeloid leukemia) is a common hematological malignancy in children with poor treatment effects and poor prognosis. Recent studies have shown that as a novel BRD4 (bromodomain containing 4) PROTACs (proteolysis targeting chimeras ...
Xu Sang, Yongping Zhang, Fang Fang, Li Gao, Yanfang Tao, Xiaolu Li, Zimu Zhang, Jianwei Wang, Yuanyuan Tian, Zhiheng Li, Di Yao, Yumeng Wu, Xinran Chu, Kunlong Zhang, Li Ma, Lihui Lu, Yanling Chen, Juanjuan Yu, Ran Zhuo, Shuiyan Wu, Zhen Zhang, Jian Pan, Shaoyan Hu   +22 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

eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy [PDF]

Genetics in Medicine, 2022
Jessica Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William A. Gahl, Francis Rossignol   +6 more
openalex   +2 more sources

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2) [PDF]

Gene Regulation and Systems Biology, 2008
Hereditary Inclusion Body Myopathy (HIBM2) is a chronic progressive skeletal muscle wasting disorder which generally leads to complete disability before the age of 50 years. There is currently no effective therapeutic treatment for HIBM2. Development of this disease is related to expression in family members of an autosomal recessive mutation of the ...
Chris Jay, Gregory Nemunaitis, John Nemunaitis, Neil Senzer, Stephan Hinderlich, Daniel Darvish, Julie Ogden, John Eager, Alex Tong, Phillip B. Maples   +9 more
openalex   +4 more sources