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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Detalles Bibliográficos
Autores principales: Koga, Yuichiro, Tsuchimoto, Daisuke, Hayashi, Yoshinori, Abolhassani, Nona, Yoneshima, Yasuto, Sakumi, Kunihiko, Nakanishi, Hiroshi, Toyokuni, Shinya, Nakabeppu, Yusaku
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710303/
https://www.ncbi.nlm.nih.gov/pubmed/33208550
http://dx.doi.org/10.1172/jci.insight.140229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710303/
https://www.ncbi.nlm.nih.gov/pubmed/33208550
http://dx.doi.org/10.1172/jci.insight.140229

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