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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書誌詳細

主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	eLife Sciences Publications Ltd 2022-02-01
シリーズ:	eLife
主題:	ADSL ADSLD microcephaly cilia SAICAR DNA damage
オンライン･アクセス:	https://elifesciences.org/articles/70518
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