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Broccolini A, Gidaro T, De Cristofaro R, et al. Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusionbody myopathy muscle. J Neurochem 2008; 105:971-981. This study demonstrates that neprilysin, an amyloid-β cleaving enzyme, is hyposialylated, and this hyposialylation is directty correlated to its decreased enzymatic activity. It may be surmised that hyposiarylation of certain proteins could lead to the increase of amyloid-β burden.
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Broccolini A, Gidaro T, De Cristofaro R, et al. Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusionbody myopathy muscle. J Neurochem 2008; 105:971-981. This study demonstrates that neprilysin, an amyloid-β cleaving enzyme, is hyposialylated, and this hyposialylation is directty correlated to its decreased enzymatic activity. It may be surmised that hyposiarylation of certain proteins could lead to the increase of amyloid-β burden.
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Galeano B, Klootwijk R, Manoli I, et al. Mutation in the key enzyme of sialic acid biosynthesis causes severe gtomenJar proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 2007; 117:1585-1594. Despite the fact that the phenotype in these mice is severe and lethal, it underscores the importance of sialic acid in the survival of mice. More importantly, the administration of ManNAc, as already has been shown in previous studies, could increase the GNE enzymatic activities and protein expression in tissues and increase the sialylation of a major kidney glycoprotein.
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Malicdan MC, Noguchi S, Nonaka I, et al. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 2007; 16:2669-2682. This study presents the model mouse that replicates the biochemical, clinical, and pathological phenotype of DMRV/hlBM among patients. Furthermore, it highlights the role of hyposialylation in this myopathy caused by GNE mutation and the presence of intracellular amyloid accumulation as an earlier event to rimmed vacuole formation or myolibrillar degeneration.
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Malicdan MC, Noguchi S, Nonaka I, et al. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 2007; 16:2669-2682. This study presents the model mouse that replicates the biochemical, clinical, and pathological phenotype of DMRV/hlBM among patients. Furthermore, it highlights the role of hyposialylation in this myopathy caused by GNE mutation and the presence of intracellular amyloid accumulation as an earlier event to rimmed vacuole formation or myolibrillar degeneration.
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Sparks S, Rakocevic G, Joe G, Manoli, et at. Intravenous immune globulin in hereditary inclusion body myopathy a pilot study. BMC Neurol 2007; 7:3. Despite this work being a pilot study, this is the first attempt to treat OMRV/hlBM patients on the basis of the concept of hyposialylation.
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