In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism
2012
Background The discovery of the inherited disorders of
creatine(Cr) synthesis and transport in the last few years disclosed the importance of blood Cr supply for the
normal functioningof the brain. These putatively
rare diseasesshare a common pathogenetic mechanism (the depletion of brain Cr) and similar phenotypes characterized by mental retardation, language disturbances, seizures and
movement disorders. In the effort to improve our knowledge on the mechanisms regulating Cr pool inside the
nervous tissue, Cr transport and synthesis and related gene transcripts were explored in primary cultures of rat cerebellar
granule cellsand astrocytes.
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