Results 51 to 60 of about 26,442 (131)

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

GNE Myopathy: Rare Muscle Weakness Disease [PDF]

GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

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

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   +1 more source

Metabolism‐Regulating Nanomedicines for Cancer Therapy

Advanced NanoBiomed Research, Volume 6, Issue 1, January 2026.
This review highlights metabolism‐regulating nanomedicines designed to target glycolytic, lipid, amino acid, and nucleotide pathways in tumors. By incorporating metabolism‐regulating agents into versatile nanocarriers such as liposomes, micelles, dendrimers, and engineered bacteria, these platforms achieve targeted delivery, controlled release ...
Xiao Wu, Shiyi Geng, Jian Yang
wiley   +1 more source

Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE)

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, Jacob L. Gorenflos López, Rebecca Rosenstengel, Carolin Neu, Christian P. R. Hackenberger, Arif Celik, Klara Weinert, Mai-Binh Nguyen, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper   +10 more
doaj   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +1 more source

Variability of Water T2 Times in Quantitative Muscle MRI: Considerations and Methodological Factors—A Narrative Review

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Quantitative muscle imaging (qMRI) is an established method for detecting muscular changes, particularly in the diagnosis and follow‐up of conditions as muscular injuries and neuromuscular diseases. While global T2 reflects all tissue components and cannot reliably indicate disease activity in fat‐replaced muscles, water T2 times (wT2) can ...
Johanna Thomä, Lionel Butry, Johannes Forsting, Martijn Froeling, Lara Schlaffke   +4 more
wiley   +1 more source

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 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, Priyanka Chaudhary, Ranjana Arya   +2 more
doaj   +1 more source