Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Brain
SUBMITTER: Jean ARMENGAUD
LAB HEAD: Jean ARMENGAUD
PROVIDER: PXD024968 | Pride | 2023-05-10
REPOSITORIES: pride
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F218867.dat | Other |
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Frontiers in molecular neuroscience 20230324
Creatine transporter deficiency (CTD), a leading cause of intellectual disability is a result of the mutation in the gene encoding the creatine transporter SLC6A8, which prevents creatine uptake into the brain, causing mental retardation, expressive speech and language delay, autistic-like behavior and epilepsy. Preclinical <i>in vitro</i> and <i>in vivo</i> data indicate that dodecyl creatine ester (DCE) which increases the creatine brain content, might be a therapeutic option for CTD patients. ...[more]