Results 51 to 60 of about 1,200 (179)

Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. [PDF]

PLoS ONE, 2010
ObjectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps.
Thomas Paccalet, Zoé Coulombe, Jacques P Tremblay   +2 more
doaj   +1 more source

Altered Actin Dynamics in Cell Migration of GNE Mutant Cells

Frontiers in Cell and Developmental Biology, 2021
Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi, Rashmi Yadav, Ranjana Arya   +2 more
doaj   +1 more source

Identification of biomarkers for GNE myopathy

The FASEB Journal, 2012
GNE‐myopathy is an autosomal recessive disorder characterized by muscle atrophy and weakness, and accumulation of amyloid proteins and rimmed vacuoles in myofibers. This disease is secondary to mutations in the GNE gene, which encodes an essential enzyme in sialic acid biosynthesis. Recently,
May Christine Malicdan, Kazunari Momma, Ichizo Nishino, Satoru Noguchi   +3 more
openaire   +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

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

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]

PLoS ONE, 2008
BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili, Hagit Zer, Stephan Hinderlich, Sabine Krause, Michal Becker-Cohen, Daniel G MacArthur, Kathryn N North, Stella Mitrani-Rosenbaum   +7 more
doaj   +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