Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids

Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive genetic disorder caused by mutations within nibrin (<i>NBN</i>), a DNA damage repair protein. Hallmarks of NBS include chromosomal instability and clinical manifestations such as growth retardation, immunodeficiency, and prog...

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Bibliographic Details
Main Authors: Soraia Martins, Lars Erichsen, Angeliki Datsi, Wasco Wruck, Wolfgang Goering, Eleftheria Chatzantonaki, Vanessa Cristina Meira de Amorim, Andrea Rossi, Krystyna H. Chrzanowska, James Adjaye
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Cells
Subjects:
iPSCs
cerebral organoids
disease modeling
p53
Neuronatin
NBS
Online Access:https://www.mdpi.com/2073-4409/11/5/802

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