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ProteomicsProteomes of human brain organoids derived from individuals with creatine transporter deficiency
Next-generation proteomics of human brain organoids derived from individuals with creatine transporter deficiency in order to assess their characteristics as models of the pathophysiology.
ORGANISM(S): Homo sapiens (Human) 
2023-10-12 | PXD040185 | Pride
Brain organoids Neuroscience Creatine transporter deficiency Proteomics Genetic disease Molecular pathways 
UnknownEstablishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.
Not available
S-EPMC12333098 | biostudies-literature
UnknownEstablishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.
Not available
S-EPMC11451665 | biostudies-literature
ProteomicsTemporal proteomic changes in hippocampus and cerebral cortex of mice carrying creatine transporter deficiency patient-derived mutation
Mutations in SLC6A8, which encodes the creatine transporter (CRT), cause creatine transporter deficiency (CTD), an X-linked genetic disorder characterized by pediatric intellectual disability due to brain creatine deficiency. In this study, we investigated the temporal proteomic changes in hippocam...
ORGANISM(S): Mus Musculus (mouse) 
2026-03-07 | PXD061561 | JPOST Repository
TranscriptomicsGene array experiment to identify genes that are upregulated by saturating creatine levels in vitro and potentially inhibiting creatine transporter (CrT) activity
We sought to investigate the mechanisms of CrT modulation by saturating extracellular Cr. For this purpose, we used an in vitro system of 3T3 fibroblasts stably overexpressing CrT and followed a global gene array approach to test the hypothesis that saturating intracellular [Cr] increases the expres...
ORGANISM(S): Mus musculus 
2012-12-07 | E-GEOD-42356 | biostudies-arrayexpress
UnknownOxidative phosphorylation in creatine transporter deficiency.
Not available
S-EPMC7722185 | biostudies-literature
UnknownNovel translational phenotypes and biomarkers for creatine transporter deficiency.
Not available
S-EPMC7472907 | biostudies-literature
GenomicsCell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
PRJNA895358 | ENA
UnknownCreatine transporter deficiency: Novel mutations and functional studies.
Not available
S-EPMC4932609 | biostudies-literature
GenomicsCell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in Creatine Transporter Deficiency
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in Creatine Transporter Deficiency
PRJNA905461 | ENA
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