Results 51 to 60 of about 4,046 (167)
Gene Editing for Haemophilia—The Next Frontier
Haemophilia, EarlyView.ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti +3 more
wiley +1 more source
Clinical Case Reports, 2022 We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu +4 more
doaj +1 more source
Synthesis of Ethyl Methyl Carbonate: Past, Present, and Future
Advanced Synthesis &Catalysis, Volume 368, Issue 15, 1 August 2026.Ethyl methyl carbonate (EMC) is the simplest asymmetric organic carbonate, with properties between dimethyl (DMC) and diethyl (DEC) carbonate, considered a unique green liquid organic compound for lithium batteries (electrolyte) and gasoline blending (octane enhancer additive), among other uses. In accordance, the chemical production of EMC is expected
Belén Lerma‐Berlanga +1 more
wiley +1 more source
Role of IGF-1R in ameliorating apoptosis of GNE deficient cells
Scientific Reports, 2018 Sialic acids (SAs) are nine carbon acidic amino sugars, found at the outermost termini of glycoconjugates performing various physiological and pathological functions.
Reema Singh +2 more
doaj +1 more source
Antibody–Drug Conjugates and Peptide–Drug Conjugates: Current Understandings and Future Perspectives
MedComm, Volume 7, Issue 8, August 2026.The graphic summarizes the design principles, intracellular trafficking, clinical progress, challenges, and future directions of antibody–drug conjugates (ADCs) and peptide–drug conjugates (PDCs). ADCs consist of a tumor‐targeting antibody, a chemical linker, and a potent payload, whereas PDCs use peptide ligands to deliver cytotoxic, radionuclide, or ...
Ruxi Zheng +9 more
wiley +1 more source
Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle
NMR in Biomedicine, Volume 39, Issue 8, August 2026.Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet +4 more
wiley +1 more source
Aberrant O‐Glc
The FEBS Journal, 2016 UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions.
Dorit, Bennmann +4 more
openaire +2 more sources
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +1 more source
Crystal structure of the N-acetylmannosamine kinase domain of GNE. [PDF]
PLoS ONE, 2009 UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy.
Yufeng Tong +4 more
doaj +1 more source
Biomolecules, 2023 Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM).
Vanessa Hagenhaus +10 more
doaj +1 more source