Neural stem cell–specific ITPA deficiency causes neural depolarization and epilepsy

Inosine triphosphate pyrophosphatase (ITPA) hydrolyzes inosine triphosphate (ITP) and other deaminated purine nucleotides to the corresponding nucleoside monophosphates. In humans, ITPA deficiency causes severe encephalopathy with epileptic seizure, microcephaly, and developmental retardation. In th...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:JCI Insight
Päätekijät: Koga, Yuichiro, Tsuchimoto, Daisuke, Hayashi, Yoshinori, Abolhassani, Nona, Yoneshima, Yasuto, Sakumi, Kunihiko, Nakanishi, Hiroshi, Toyokuni, Shinya, Nakabeppu, Yusaku
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 2020
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7710303/
https://ncbi.nlm.nih.gov/pubmed/33208550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.140229
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