Articles with "plcb1" as a keyword



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Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency

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Published in 2023 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2023.1118707

Abstract: 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… read more here.

Keywords: plcb1; creatine; kif1a; brain ... See more keywords