Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy
نویسندگان
چکیده
منابع مشابه
Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy
GNE myopathy is an autosomal recessive muscular disorder of young adults characterized by progressive skeletal muscle weakness and wasting. It is caused by a mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which encodes a key enzyme in sialic acid biosynthesis. The mutated hypofunctional GNE is associated with intracellular accumulation of amyloid β-pe...
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چکیده ندارد.
15 صفحه اولCell stress molecules in the skeletal muscle of GNE myopathy
BACKGROUND Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive. In sporadic inclusion body myositis (sIBM), the pro-inflammatory cell-stress mediators αB-crystallin and inducible nitric oxide synthase (iNOS) are crucial markers of the disease ...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2012
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2012.10.011