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東北電力 女川原発2号機 地元自治体が再稼働をどう判断か注目 (NHK)

26日、原子力規制委員会の審査に合格した宮城県にある女川原子力発電所2号機について国と東北電力は、再稼働に必要な自治体の同意に向けた手続きを進めることになり今後...

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A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

著者 Costa R , Bellesso S , Lualdi S , Manzoli R , Pistorio V , Filocamo M , Moro E
Hum Mol Genet.2019 Dec 09 ; ():.
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Bone differentiation defects have been recently tied to Wnt signaling alterations occurring in vitro and in vivo Gaucher disease models. In this work, we provide evidence that the Wnt signaling multi-domain intracellular transducers DISHEVELLED 1 and 2 (DVL1 and DVL2) may be potential upstream targets of impaired beta glucosidase (GBA1) activity by showing their misexpression in different type 1 Gaucher disease in vitro models. We also show that in Gba mutant fish a miR-221 upregulation is associated with reduced dvl2 expression levels and that in type I Gaucher patients single nucleotide variants (SNVs) in the DVL2 3'UTR are related to variable canonical Wnt pathway activity. Thus, we strengthen the recently outlined relation between bone differentiation defects and Wnt/β-catenin dysregulation in type I Gaucher disease, and further propose novel mechanistic insights of the Wnt pathway impairment caused by glucocerebrosidase loss of function.
PMID: 31816052 [PubMed - as supplied by publisher]
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