Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)
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چکیده
منابع مشابه
Proteasomes in distal myopathy with rimmed vacuoles.
In a previous report we suggested that muscle fibers in distal myopathy with rimmed vacuoles (DMRV) were degraded by both lysosomal proteolysis (cathepsins) and Ca2+-dependent, nonlysosomal proteolysis (calpain). Given recent evidence of abnormal ubiquitin accumulation in rimmed vacuoles, we examined the role of the ATP-ubiquitin-dependent proteolytic pathway (proteasomes) in myofiber degradati...
متن کاملThe ubiquitin-proteasome pathway in distal myopathy with rimmed vacuoles.
The protein synthesis and degradation of eukaryotic cells must be highly selective and tightly regulated to maintain cellular homeostasis. Like other tissues, muscle contains multiple pathways for protein breakdown including the lysosomal, Ca2+-dependent, and cytosolic ATP-dependent and independent proteolytic systems. These pathways are considered to play important roles not only in cellular d...
متن کاملAquaporin-4 expression in distal myopathy with rimmed vacuoles
BACKGROUND Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. C...
متن کاملA preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is a moderately progressive hereditary muscle disorder affecting young adults. DMRV/hIBM is characterized clinically by muscle atrophy and weakness initially involving the distal muscles, and pathologically by the presence of small angular fibers, formation of rimmed vacuoles and deposition of va...
متن کاملA Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. It is pathologically characterized by the presence of rimmed vacuoles (RVs), especially i...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2012
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.52.1210