Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. [PDF]
, 2016 OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of ...
Birchall, D +7 more
core +2 more sources
Treatment for inclusion body myositis [PDF]
, 2015 Background Inclusion body myositis (IBM) is a late-onset inflammatory muscle disease (myopathy) associated with progressive proximal and distal limb muscle atrophy and weakness.
Brassington, Ruth +7 more
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Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]
, 2012 Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah +4 more
core +1 more source
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]
, 2016 Background Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure.
et al,, Pestronk, Alan
core +7 more sources
Crystal structure of the N-acetylmannosamine kinase domain of GNE. [PDF]
PLoS ONE, 2009 UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy.
Yufeng Tong +4 more
doaj +1 more source
Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions [PDF]
, 2017 GNE myopathy is a rare muscle disorder associated with aging and is related to sporadic inclusion body myositis (sIBM), the most common acquired muscle disease of aging. While the cause of sIBM is unknown, GNE myopathy is associated with mutations in UDP-
Dell, A +7 more
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A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy [PDF]
, 2013 BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway.
서경임, 최영철, 홍지만
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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
Altered Actin Dynamics in Cell Migration of GNE Mutant Cells
Frontiers in Cell and Developmental Biology, 2021 Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi +2 more
doaj +1 more source
Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных [PDF]
, 2019 Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
A. F. Murtazina +13 more
core +2 more sources