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Article

Pathway-specific effects of ADSL deficiency on neurodevelopment.

eLife - 8 Feb 2022

Dutto Ilaria, Gerhards Julian, Herrera Antonio, Souckova Olga, Škopová Václava, Smak Jordann A, Junza Alexandra, Yanes Oscar, Boeckx Cedric, Burkhalter Martin D, Zikánová Marie, Pons Sebastian, Philipp Melanie, Lüders Jens, Stracker Travis H

Abstract excerpt

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 levels but exhibit accumulation of dephosphorylated ADSL substrates, S-Ado, and SAICAr, the latter being implicated in neurotoxic...

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Identifiers

PMID: 35133277
DOI: 10.7554/eLife.70518
PMCID: PMC8871376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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