Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: DrugBank:EXPT01586 (
G418
)
2,237
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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 a faint band of full-length mutant protein of M4 but not M2 at a similar position with that of wild-type
B4GALNT1
. AGC sequences at immediately before and after the PTC in M4 were critical for the readthrough. Treatment of cells transfected with mutant M4 cDNA with aminoglycosides resulted in increased readthrough of PTC. Furthermore, treatment of transfectants of mutant M2 cDNA with
G418
also resulted in the induction of readthrough of PTC. Both M4 and M2 cDNA transfectants showed increased/induced bands in immunoblotting and GM2 expression in a dose-dependent manner of aminoglycosides. Results of mass spectrometry supported this effect. Here, we showed for the first time the induction and/or enhancement of the readthrough of PTCs of
B4GALNT1
by aminoglycoside treatment, suggesting that aminoglycosides are efficient for patients with HSP caused by PTC of
B4GALNT1
, in which gradual neurological disorders emerged with aging.
...
PMID:Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia. 3228 10
