Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort [PDF]
Open Medicine, 2021 GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi +4 more
doaj +7 more sources
Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy [PDF]
Annals of Clinical and Translational Neurology, 2023 Objective Multisystem proteinopathy type 3 (MSP3) is an inherited, pleiotropic degenerative disorder caused by a mutation in heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1), which can affect the muscle, bone, and/or nervous system.
Rumiko Izumi +10 more
doaj +4 more sources
Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies. [PDF]
Genes (Basel), 2023 The GNE-associated V727M mutation is one of the most prevalent ethnic founder mutations in the Asian HIBM cohort; however, its role in inducing disease phenotype remains largely elusive. In this study, the function of this hotspot mutation was profoundly
Attri S +6 more
europepmc +5 more sources
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 +7 more sources
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy [PDF]
MoleculesGNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults.
Cristina Manis +9 more
doaj +6 more sources
Conductance Tunable Suspended Graphene Nanomesh by Helium Ion Beam Milling [PDF]
Micromachines, 2020 This paper demonstrates that the electrical properties of suspended graphene nanomesh (GNM) can be tuned by systematically changing the porosity with helium ion beam milling (HIBM).
Fayong Liu +8 more
doaj +3 more sources
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model [PDF]
Nature Medicine, 2009 Distal myopathy with rimmed vacuoles (DMRV)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive myopathy; eventually, affected individuals become wheelchair bound1. It is characterized clinically by skeletal muscle atrophy and weakness, and pathologically by rimmed vacuoles, which are actually ...
May Christine V Malicdan +2 more
exaly +4 more sources
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria [PDF]
Glycobiology, 2010 The bifunctional enzyme UDP-GlcNAc 2-epimerase/ ManNAc kinase (GNE/MNK), encoded by the GNE gene, catalyzes the first two committed, rate-limiting steps in the biosynthesis of N-acetylneuraminic acid (sialic acid). GNE/MNK is feedback inhibited by binding of the downstream product, CMP-sialic acid in its allosteric site. GNE mutations can result in two
Tal Yardeni, Marjan Huizing
exaly +4 more sources
An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review [PDF]
Frontiers in Neurology, 2023 BackgroundANXA11 mutations were first reported to be associated with amyotrophic lateral sclerosis (ALS) in 2017. Several studies have investigated the prevalence of ANXA11 mutations in different populations, while less is known about the spectrum of ...
Xin Zhang +6 more
doaj +2 more sources
Background Strain and Natural Selection Improves Survival of HIBM [PDF]
Molecular Biology Open Access, 2012 GNE myopathy, or Hereditary Inclusion Body Myopathy (HIBM), is an autosomal recessive adult-onset muscle wasting disorder caused by hypomorphic GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase), the rate-limiting enzyme of sialic acid (Sia) biosynthesis.
Z. Khokher +5 more
semanticscholar +2 more sources