Preclinical assessment of GNEwt/bi-shRNA-GNEM743T lipoplex product development for GNE myopathy [PDF]
Future Science OAAims GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production.
Fabienne Kerneis +11 more
doaj +4 more sources
Generation and characterization of a novel gne Knockout Model in Zebrafish
Frontiers in Cell and Developmental Biology, 2022 GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Stella Mitrani-Rosenbaum +2 more
exaly +3 more sources
Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance [PDF]
Molecular MedicineRare 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 +10 more
doaj +2 more sources
Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]
PLoS ONEObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri +9 more
doaj +2 more sources
In vivo and in vitro genome editing to explore GNE functions
Frontiers in Genome Editing, 2022 GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Stella Mitrani-Rosenbaum +2 more
exaly +3 more sources
Defective autophagy in GNE myopathy is rescued by inhibition of noncanonical Akt–mTORC1 activation across multiple isogenic models [PDF]
Experimental and Molecular MedicineGNE myopathy is a recessive autosomal disease caused by mutations in glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), characterized by impaired sialic acid biosynthesis and the formation of rimmed vacuoles.
Dong-Woo Kim +4 more
doaj +2 more sources
Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression [PDF]
CellsGNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic acid ...
Carolin T. Neu +4 more
doaj +2 more sources
GNE myopathy: History, etiology, and treatment trials
Frontiers in Neurology, 2022 GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Tahseen Mozaffar, Mozaffar Tahseen
exaly +3 more sources
GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]
Molecular Genetics and Metabolism ReportsGNE 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
CRISPR-Based Gene Dependency Screens Reveal Mechanism of BRAF Inhibitor Resistance in Anaplastic Thyroid Cancer. [PDF]
Mol CarcinogABSTRACT Anaplastic thyroid cancer (ATC) is the most aggressive form of thyroid cancer. Despite recent advances in treating BRAFV600E‐driven ATC, therapy resistance remains a significant challenge, often resulting in disease progression and death.
Noronha S +26 more
europepmc +2 more sources