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Page 1
An Atomic Structure of the Human Spliceosome.
Zhang X, Yan C, Hang J, Finci LI, Lei J, Shi Y. Zhang X, et al. Cell. 2017 May 18;169(5):918-929.e14. doi: 10.1016/j.cell.2017.04.033. Epub 2017 May 11. Cell. 2017. PMID: 28502770 Free article.
A 35-residue fragment of the ATPase/helicase Prp22 latches onto Prp8, and the quaternary exon junction complex (EJC) recognizes upstream 5'-exon sequences and associates with Cwc22 and the GTPase Snu114. These structural features reveal important mechanistic insights into …
A 35-residue fragment of the ATPase/helicase Prp22 latches onto Prp8, and the quaternary exon junction complex (EJC) recognizes upstream 5'- …
The feedback loop of EFTUD2/c-MYC impedes chemotherapeutic efficacy by enhancing EFTUD2 transcription and stabilizing c-MYC protein in colorectal cancer.
Zhu X, Li C, Gao Y, Zhang Q, Wang T, Zhou H, Bu F, Chen J, Mao X, He Y, Wu K, Li N, Luo H. Zhu X, et al. J Exp Clin Cancer Res. 2024 Jan 2;43(1):7. doi: 10.1186/s13046-023-02873-0. J Exp Clin Cancer Res. 2024. PMID: 38163859 Free PMC article.
We also demonstrated both in vitro and in vivo that knockdown of EFTUD2 sensitized CRC cells to 5-FU treatment, whereas overexpression of EFTUD2 impaired such sensitivity. ...CONCLUSION: Our findings revealed a positive feedback loop involving an EFTUD2/c-MYC …
We also demonstrated both in vitro and in vivo that knockdown of EFTUD2 sensitized CRC cells to 5-FU treatment, whereas overexpressio …
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attié-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O'Keefe RT. Thomas HB, et al. Hum Mutat. 2020 Aug;41(8):1372-1382. doi: 10.1002/humu.24027. Epub 2020 May 3. Hum Mutat. 2020. PMID: 32333448
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions …
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disor …
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Abell K, et al. Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247512 Free PMC article.
Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM …
Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features inclu …
Alternative spliceosomal protein Eftud2 mediated Kif3a exon skipping promotes SHH-subgroup medulloblastoma progression.
Li Y, Chen L, Xue S, Song Z, Liu H, Li H, Shen W, Zhang C, Wu H. Li Y, et al. Cell Death Differ. 2025 Oct;32(10):1930-1945. doi: 10.1038/s41418-025-01512-9. Epub 2025 Apr 24. Cell Death Differ. 2025. PMID: 40275081 Free PMC article.
This investigation delineated an upregulation of the spliceosomal protein Eftud2 in the SHH-subgroup medulloblastoma mouse model and human medulloblastoma patients. Targeted ablation of Eftud2 in granule precursor cells (GNPs) within the cerebellum prolonged the sur …
This investigation delineated an upregulation of the spliceosomal protein Eftud2 in the SHH-subgroup medulloblastoma mouse model and …
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
Ulhaq ZS, Soraya GV, Istifiani LA, Pamungkas SA, Arisanti D, Dini B, Astari LF, Hasan YTN, Ayudianti P, Kusuma MAS, Shodry S, Herawangsa S, Nurputra DK, Idaiani S, Tse WKF. Ulhaq ZS, et al. Cleft Palate Craniofac J. 2024 Apr;61(4):688-696. doi: 10.1177/10556656221136177. Epub 2022 Nov 1. Cleft Palate Craniofac J. 2024. PMID: 36317361
OBJECTIVE: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). Yet, the association between the severity of clini …
OBJECTIVE: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-A …
Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review).
Yin A, Zhu Q, Chen Y, Wang J. Yin A, et al. Mol Med Rep. 2025 May;31(5):134. doi: 10.3892/mmr.2025.13499. Epub 2025 Mar 21. Mol Med Rep. 2025. PMID: 40116087 Free PMC article. Review.
The present review discussed the molecular mechanisms by which EFTUD2 exerts its physiological functions, focusing on EFTUD2 mutations and their corresponding clinical manifestations. It aimed to provide insight for the diagnosis and treatment of EFTUD2-relat …
The present review discussed the molecular mechanisms by which EFTUD2 exerts its physiological functions, focusing on EFTUD2 m …
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways.
Chen L, Li Y, Yu Y, Cai M, Li H, Huang M, Yang G, Guo J, Wang H, Song Z, Shen W, Jiang H, Wu H. Chen L, et al. Adv Sci (Weinh). 2025 Aug;12(32):e04200. doi: 10.1002/advs.202504200. Epub 2025 May 31. Adv Sci (Weinh). 2025. PMID: 40448601 Free PMC article.
Elongation Factor Tu GTP-Binding Domain Containing 2 (EFTUD2), a core spliceosomal GTPase associated with Mandibulofacial Dysostosis with Microcephaly (MFDM), plays a mechanistically undefined role in cerebral development. To investigate its pathophysiological contr …
Elongation Factor Tu GTP-Binding Domain Containing 2 (EFTUD2), a core spliceosomal GTPase associated with Mandibulofacial Dysostosis …
Spliceosomal GTPase EFTUD2 mediates DDX41 intron retention to promote the malignant progression of ovarian cancer.
Liu Y, Chen Z, Duan Y, Shao Z, Chen Y, Yang N, Xiao H, Li Y, Song K. Liu Y, et al. Br J Cancer. 2025 Sep;133(4):508-523. doi: 10.1038/s41416-025-03079-1. Epub 2025 Jun 24. Br J Cancer. 2025. PMID: 40555777
RNA-seq and AS events analysis were employed to determine the key downstream target regulated by EFTUD2. ASOs targeting EFTUD2 were developed for efficacy validation. RESULTS: EFTUD2 was identified as a critical splicing factor in the pathogenesis of OC, and …
RNA-seq and AS events analysis were employed to determine the key downstream target regulated by EFTUD2. ASOs targeting EFTUD2 …
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT. Wood KA, et al. Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169. Hum Mol Genet. 2019. PMID: 31304552 Free PMC article.
The craniofacial disorder mandibulofacial dysostosis Guion-Almeida type is caused by haploinsufficiency of the U5 snRNP gene EFTUD2/SNU114. However, it is unclear how reduced expression of this core pre-mRNA splicing factor leads to craniofacial defects. Here we use …
The craniofacial disorder mandibulofacial dysostosis Guion-Almeida type is caused by haploinsufficiency of the U5 snRNP gene EFTUD2/ …
60 results