Results 31 to 40 of about 417 (116)
Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]
PLoS ONE, 2012 Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito +7 more
doaj +1 more source
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]
PLoS ONE, 2017 GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan +7 more
doaj +1 more source
Brain Pathology, Volume 30, Issue 2, Page 261-271, March 2020., 2020 Abstract Diffuse myofiber necrosis in the context of inflammatory myopathy is the hallmark of immune‐mediated necrotizing myopathy (IMNM). We have previously shown that skeletal muscle fibers of IMNM patients may display nonrimmed vacuoles and sarcoplasmic irregularities. The dysfunctional chaperone activity has been linked to the defective assembly of
Norina Fischer +15 more
wiley +1 more source
Hereditary inclusion body myopathy (HIBM) is a unique muscular disorder caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene.
Mitrani-Rosenbaum S +6 more
core +5 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
PLoS ONE, 2008 Growing evidence supports the importance of ubiquitin ligases in the pathogenesis of muscular disorders, although underlying mechanisms remain largely elusive.
Agnès Delaunay +16 more
doaj +1 more source
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 +10 more
wiley +1 more source
Tournament effects in equity mutual funds: Impact of economic conditions and investment styles
Journal of Financial Research, Volume 49, Issue 1, Page 286-325, Spring 2026.Abstract Mutual funds engage in annual competitions to secure top positions in year‐end performance rankings. One effect implies that losing funds increase their risk more than winning funds, hoping to improve their rankings. Another effect involves a rational response by winning funds that anticipate the actions of losing funds and take more risk to ...
Stéphane Chrétien +2 more
wiley +1 more source
Small, Volume 15, Issue 46, November 13, 2019., 2019 The experimental observation of large transport gap of 0.8 eV in ≈6 nm wide suspended graphene nanoribbon (GNR) functional devices fabricated by a helium ion milling technique is presented. The antiferromagnetic coupling between opposite edges in the zigzag GNRs and the enhanced electron–electron interaction due to the reduced dielectric screening in ...
Marek E. Schmidt +7 more
wiley +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, Volume 2018, Issue 1, 2018., 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
Marco Antonio Curiati +5 more
wiley +1 more source