Results 81 to 90 of about 2,519,227 (189)

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 M, 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 S, Templeton, Joseph, Kuhn, Neil, Senzer, John, Nemunaitis   +15 more
openaire   +2 more sources

Eyes Toward the Clinic: Selective Inhibition and Degradation Approaches to Bromodomain‐Containing Proteins

ChemBioChem, Volume 27, Issue 13, 14 July 2026.
The function of bromodomain‐containing proteins in regulating gene transcription is reviewed here, including the development of chemical probes and targeted protein degradation modalities (e.g., PROTACs). This extends to clinical efforts targeting the BET bromodomain‐containing proteins. Challenges of selectivity, future prospects, and the differential
Cole R. Scholtz, William C. K. Pomerantz
wiley   +1 more source

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Frontiers in Neurology, 2020
Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Madhu Bala Singla, Madhu Bala Singla, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Logan Gloster, Madhuri Hegde, Madhuri Hegde   +18 more
doaj   +1 more source

Targeting Supramolecular Active Complexes of Nav1.7/Nav1.8 to Relieve Chronic Neuropathic Pain

Advanced Science, Volume 13, Issue 41, 22 July 2026.
In mice and patients with severe chronic neuropathic pain (NP), Nav1.7, Nav1.8, TrkB, and five cytoskeletal proteins form supramolecular active complexes (SMACs) with polygonal lattice structures as noxious signal amplifiers in dorsal root ganglion (DRG) neurons.
Liting Sun, Hang Xian, Yunxin Shi, Taotan Yang, Hongyan Shuai, Wenchao Hu, Siying Fei, Miao Xu, Taoyuan Yang, Ruilong Xia, Ting Wen, Fengting Zhu, Yan Fu, Yang Li, Wei Xia, Ran Qian, Yuanying Liu, Zhicheng Tian, Lamei Li, Qian Zhou, Lize Xiong, Rui Cong, Ceng Luo, Shengxi Wu, Xiafeng Shen, Xin Yu, Rou‐Gang Xie, Changgeng Peng   +27 more
wiley   +1 more source

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

, 2020
Background Hereditary inclusion body myopathy (HIBM) is an autosomal recessive adult onset myopathy. It is characterized by mutations of the GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase) gene. Afflicted patients have no therapeutic
Joseph Kuhn, Chris Jay, Justin Poling, Anagha P Phadke, Gregory Nemunaitis, John Nemunaitis, Phillip B Maples, Cynthia Bedell, Marjan Huizing, Neil Senzer, William A Gahl, Nancy S Templeton, Beena O Pappen, Alex W Tong   +13 more
core  

Lactate metabolism and lactylation in female reproductive diseases: From metabolic rewiring to biomarkers and translational therapeutics

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
1. Lactate‐derived histone lactylation links glycolytic reprogramming to epigenetic regulation in female reproductive diseases. 2. In endometriosis, lactylation may promote inflammatory remodelling, immune dysregulation and ferroptosis resistance. 3. In PCOS, lactylation connects metabolic disturbance to granulosa‐cell dysfunction and hyperandrogenism.
Jiajun Qiao, Yue Xiao, Yi Cheng, Weihai Xu, Jing Shu, Shishi Li   +5 more
wiley   +1 more source

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   +1 more source

Fighting the Cause of Alzheimer’s and GNE Myopathy

Frontiers in Neuroscience, 2018
Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle ...
Shreedarshanee Devi, Rashmi Yadav, Pratibha Chanana, Ranjana Arya   +3 more
doaj   +1 more source

Exploring the multifaceted role of GNE in GNE myopathy [PDF]

101080249) and the Canada Research Coordinating Committee New Frontiers in Research Fund (NFRFG-2022-00033) for SIMPATHIC, and from the Government of Canada First Research Excellence Fund (CFREF) for the Brain-Heart Interconnectome (CFREF-2022-00007 ...
Pereira, Beatriz L., Lochmüller, Hanns, Barbosa, Mariana, Granjo, Pedro, Videira, Paula A.   +4 more
core   +1 more source