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Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects

25 Apr 2020

Abstract excerpt

Neural tube defects (NTDs) are severe congenital malformations caused by failed neural tube closure. Recently, autophagy is revealed to play a vital role in neuroepithelium development and neurulation. Autophagy and beclin 1 regulator 1 (Ambra1) is a crucial regulator of autophagy initiation, and its deficiency in mice leads to exencephaly and/or spina bifida. However, the genetic contribution of AMBRA1 to the...

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PMID: 32333458
DOI: 10.1002/humu.24028

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