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腸内ウイルス由来の酵素で原因菌を破壊 大阪市大と東大の研究チーム (毎日新聞)

[PR] 腸内細菌のウイルス感染状況を網羅的に調べることで、偽膜性腸炎の原因菌を破壊する抗菌物質を見つけ出す方法を開発したと、大阪市大と東京大の研究チームが発表...

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  2. 「療養状況等及び入院患者受入病床数等に関...
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Mutated in its Ortholog Recapitulates Neuronopathic Gaucher Disease.

著者 Cabasso O , Paul S , Dorot O , Maor G , Krivoruk O , Pasmanik-Chor M , Mirzaian M , Ferraz M , Aerts J , Horowitz M
J Clin Med.2019 Sep 09 ; 8(9):.
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Gaucher disease (GD) results from mutations in the gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, type 1 GD, and two neurological, type 2 and type 3, forms. We studied the two fly orthologs, and . Each contains a Minos element insertion, which truncates its coding sequence. In the flies, which express a mutant protein, missing 33 C-terminal amino acids, there was no decrease in GCase activity or substrate accumulation. However, mutant flies presented a significant decrease in GCase activity with concomitant substrate accumulation, which included C14:1 glucosylceramide and C14:0 glucosylsphingosine. mutant flies showed activation of the Unfolded Protein Response (UPR) and presented inflammation and neuroinflammation that culminated in development of a neuronopathic disease. Treatment with ambroxol did not rescue GCase activity or reduce substrate accumulation; however, it ameliorated UPR, inflammation and neuroinflammation, and increased life span. Our results highlight the resemblance between the phenotype of the mutant fly and neuronopathic GD and underlie its relevance in further GD studies as well as a model to test possible therapeutic modalities.
PMID: 31505865 [PubMed]
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