SQSTM1splice site mutation in distal myopathy with rimmed vacuoles
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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 Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. Characteristic pathologic features of DMRV are rimmed vacuoles on muscle biopsy and tubulofilamentous inclusion in ultrastructural study. Presence of inflammation in DMRV is unusual....
متن کاملRecent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
PURPOSE OF REVIEW Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies. RECENT FINDINGS...
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ژورنال
عنوان ژورنال: Neurology
سال: 2015
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000001864