Article

Defective DcpS Decapping Manifests in Creatine Deficiency Syndrome and Neurological impairment

2024-12-19

Abstract excerpt

Biallelic mutations in the DCPS gene disrupting the decapping activity of the scavenger decapping protein DcpS, leads to neurodevelopmental deficiencies and intellectual disability. However, the molecular basis for the neurogenesis defects in these individuals remains unknown. Here we show that cells derived from individuals with a DCPS mutation harbor a creatine deficiency and a corresponding elevation of the c...

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Literature Corpus work: 2317f990-09e7-51cd-ad29-6c99986959f6
DOI: 10.1101/2024.12.18.629192

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