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Article

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.

Nucleic acids research - 7 Apr 2017

Lei Lei, Yan Shou-Yu, Yang Ran, Chen Jia-Yu, Li Yumei, Bu Ye, Chang Nannan, Zhou Qinchao, Zhu Xiaojun, Li Chuan-Yun, Xiong Jing-Wei

Abstract excerpt

Haploinsufficiency of EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is linked to human mandibulofacial dysostosis, Guion-Almeida type (MFDGA), but the underlying cellular and molecular mechanisms remain to be addressed. We report here the isolation, cloning and functional analysis of the mutated eftud2 (snu114) in a novel neuronal mutant fn10a in zebrafish. This mutant displayed abnormal brain...

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Source

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Identifiers

PMID: 27899647
DOI: 10.1093/nar/gkw1043
PMCID: PMC5389467

Genes

EFTUD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.PMID 27899647Read ↗

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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.Semantic proximity Read ↗

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