PMC:5590178 / 21689-22599 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5590178","sourcedb":"PMC","sourceid":"5590178","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5590178","text":"P.Asp128Asn induces a significantly higher number of GFAP aggregations in the zebrafish embryos compared to WT GFAP\nTo ascertain whether the p.Asp128Asn GFAP allele of the proband is aggregation prone, we first compared expression levels between p.Asp128Asn GFAP and WT GFAP in HEK293T cells by Western blotting and observed comparable expression levels of the two GFAP alleles (Fig. 2a and b), demonstrating that the p.Asp128Asn does not affect GFAP stability. We next repeated the aggregation assay in zebrafish embryos with p.Asp128Asn GFAP plasmids, and found that p.Asp128Asn induced a significantly higher number of GFP aggregations in both head and trunk regions of the embryos compared to GFAP WT (Fig. 3c-e). Moreover, TEM revealed more electron dense inclusions in p.Asp128Asn embryos than WT embryos (Fig. 4a, d). These findings indicate that p.Asp128Asn is aggregation prone and thus may cause AxD.","divisions":[{"label":"title","span":{"begin":0,"end":115}}],"tracks":[]}