Back to Search
Start Over
4‐Phenylbutyrate rescues folding‐deficient creatine transporter‐1 variants linked to the creatine transporter deficiency syndrome
- Source :
- The FASEB Journal. 33
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- Mutations in the coding sequence of the hCRT-1 gene (SLC6A8) have been associated with the creatine transporter deficiency (CTD) syndrome. CTD encompasses a range of moderate to severe conditions, ...
- Subjects :
- Moderate to severe
fungi
genetic processes
Biology
environment and public health
Biochemistry
Molecular biology
Phenylbutyrate
enzymes and coenzymes (carbohydrates)
Creatine transporter deficiency
health occupations
Genetics
Coding region
CTD
Molecular Biology
Gene
Creatine transporter
Biotechnology
Subjects
Details
- ISSN :
- 15306860 and 08926638
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- The FASEB Journal
- Accession number :
- edsair.doi...........1a27469001a945c55a87599109c3f1ed
- Full Text :
- https://doi.org/10.1096/fasebj.2019.33.1_supplement.780.12