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 +6 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 investigated.
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 +5 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 Murine Model [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.
Valles Ayoub. Y
openalex +2 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 +2 more sources
Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis [PDF]
Frontiers in Neuroscience, 2018 Hereditary Inclusion Body Myopathy (HIBM) is a rare autosomal dominant or recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant or recessive and occurs in adulthood.
Yan Lu +8 more
doaj +2 more sources
Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy [PDF]
Annals of Clinical and Translational NeurologyObjective 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 +2 more sources
The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo [PDF]
Biomolecules, 2020 In studies on the degradation of glycogen by rhGAA, a glycosylated protein core material was found which consists of about 5–6% of the total starting glycogen. There was an additional 25% of the glycogen unaccounted for based on glucose released.
Allen K. Murray
doaj +2 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 +2 more sources