Article

SAICAr-dependent and independent effects of ADSL deficiency on neurodevelopment

2020-11-23

Abstract excerpt

Adenylosuccinate Lyase (ADSL) functions in the de novo purine biosynthesis pathway. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients have normal purine nucleotide levels but exhibit accumulation of the dephosphorylated ADSL substrates SAICAr and S-Ado. SAICAr was implicated in the neurotoxic effects of ADSLD, although its r...

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Literature Corpus work: 7ce7b0b7-dd48-563c-99bd-feca2735bc86
DOI: 10.1101/2020.11.23.394767

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