Pathway-specific effects of ADSL deficiency on neurodevelopment

Pathway-specific effects of ADSL deficiency on neurodevelopment

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 exhib...

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Bibliographic Details
Main Authors: Ilaria Dutto, Julian Gerhards, Antonio Herrera, Olga Souckova, Václava Škopová, Jordann A Smak, Alexandra Junza, Oscar Yanes, Cedric Boeckx, Martin D Burkhalter, Marie Zikánová, Sebastian Pons, Melanie Philipp, Jens Lüders, Travis H Stracker
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2022-02-01
Series:eLife
Subjects:
ADSL
ADSLD
microcephaly
cilia
SAICAR
DNA damage
Online Access:https://elifesciences.org/articles/70518

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