Article
Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia.
Journal of biochemistry - 1 Aug 2020
Yesmin Farhana, Bhuiyan Robiul H, Ohmi Yuhsuke, Ohkawa Yuki, Tajima Orie, Okajima Tetsuya, Furukawa Keiko, Furukawa Koichi
Abstract excerpt
The readthrough of premature termination codon (PTC) by ribosome sometimes produces full-length proteins. We previously reported a readthrough of PTC of glycosyltransferase gene B4GALNT1 with hereditary spastic paraplegia (HSP). Here we featured the readthrough of B4GALNT1 of two mutants, M4 and M2 with PTC by immunoblotting and flow cytometry after transfection of B4GALNT1 cDNAs into cells. Immunoblotting showed...
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