p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.

Lukana NgiwsaraJames R Ketudat-CairnsPhannee SawangareetrakulRatana CharoenwattanasatienVoraratt ChampattanachaiChulaluck KuptanonSuthipong PangkanonThipwimol Tim-AroonDuangrurdee WattanasirichaigoonJisnuson Svasti

Published in: Annals of human genetics (2017)

Mutational spectrum underlying intermediate MPS I is expanded. Our data suggest that the p.X654R is an intermediate IDUA mutant allele with residual enzyme activity. It can lead to intermediate or milder form of MPS I depending on another associated allele.

Keyphrases

induced apoptosis
cell cycle arrest
electronic health record
oxidative stress
machine learning
replacement therapy
signaling pathway
cell death
deep learning
wild type