Pathway-specific effects of ADSL deficiency on neurodevelopment
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DOI: 10.7554/elife.70518
Abstract: Adenylosuccinate lyase (ADSL) functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. ADSL deficiency (ADSLD) causes numerous neurodevelopmental pathologies, including microcephaly and autism spectrum disorder. ADSLD patients have normal serum purine nucleotide… read more here.
Keywords: pathway specific; effects adsl; purine; adsl deficiency ... See more keywords