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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871376/
https://www.ncbi.nlm.nih.gov/pubmed/35133277
http://dx.doi.org/10.7554/eLife.70518

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871376/
https://www.ncbi.nlm.nih.gov/pubmed/35133277
http://dx.doi.org/10.7554/eLife.70518

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