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
CRISPR‐Based Gene Dependency Screens Reveal Mechanism of BRAF Inhibitor Resistance in Anaplastic Thyroid Cancer [PDF]
Molecular Carcinogenesis, Volume 65, Issue 7, Page 874-887, July 2026.ABSTRACT 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.
Shawn Noronha +26 more
wiley +2 more sources
médecine/sciences, 2015 La myopathie GNE est une maladie neuromusculaire rare et de description relativement récente. Elle touche une population majoritairement d’âge adulte et se transmet selon un mode autosomique récessif.
J. Andoni Urtizberea, Anthony Béhin
openaire +2 more sources
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 +2 more sources
Novel missense variants associated with GNE myopathy
GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups.
Lucchini M., Mirabella M., Tasca G.
core +3 more sources
Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances [PDF]
Annals of Indian Academy of NeurologyGNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decreased production
Wakako Yoshioka +2 more
doaj +2 more sources
GNE-235: A Lead Compound Selective for the Second Bromodomain of PBRM1
, 2023 Bromodomains are acetyl-lysine binding modules that are found in different classes of chromatin-interacting proteins. Among these are large chromatin remodeling complexes such as BAF and PBAF (variants of human SWI/SNF).
Andrea G. Cochran (2360665) +1 more
core +4 more sources
GNE-493 inhibits prostate cancer cell growth via Akt-mTOR-dependent and -independent mechanisms
Cell Death Discovery, 2022 GNE-493 is a novel PI3K/mTOR dual inhibitor with improved metabolic stability, oral bioavailability, and excellent pharmacokinetic parameters. Here GNE-493 potently inhibited viability, proliferation, and migration in different primary and established ...
Lu Jin +5 more
doaj +1 more source
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 +2 more
doaj +1 more source