Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study-Reference-Cited by-同舟云学术

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Published:2024-02-15 Issue:9 Volume:32 Page:1144-1149
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Paulet Alix^ORCID,Bennett-Ness Cavan,Ageorges Faustine,Trost Detlef,Green Andrew^ORCID,Goudie David,Jewell Rosalyn^ORCID,Kraatari-Tiri Minna^ORCID,PIARD Juliette^ORCID,Coubes Christine,Lam Wayne^ORCID,Lynch Sally Ann,Groeschel Samuel,Ramond Francis^ORCID,Fluss Joël,Fagerberg Christina^ORCID,Brasch Andersen Charlotte,Varvagiannis Konstantinos,Kleefstra Tjitske,Gérard Bénédicte,Fradin Mélanie^ORCID,Vitobello Antonio^ORCID,Tenconi Romano,Denommé-Pichon Anne-Sophie^ORCID,Vincent-Devulder Aline,Haack Tobias,Marsh Joseph A^ORCID,Laulund Lone Walentin,Grimmel Mona,Riess Angelika,de Boer Elke^ORCID,Padilla-Lopez Sergio,Bakhtiari Somayeh,Ostendorf Adam,Zweier Christiane,Smol Thomas,Willems Marjolaine,Faivre Laurence,Scala Marcello,Striano Pasquale,Bagnasco Irene,Koboldt Daniel,Iascone Maria,Suerink Manon,Kruer Michael C^ORCID,Levy Jonathan^ORCID,Verloes Alain^ORCID,Abbott Catherine M^ORCID,Ruaud Lyse^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01560-8.pdf

Reference30 articles.

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2. Abbott CM, Newbery HJ, Squires CE, Brownstein D, Griffiths LA, Soares DC. eEF1A2 and neuronal degeneration. Biochem Soc Trans. 2009;37:1293–7. https://doi.org/10.1042/BST0371293.

3. Newbery HJ, Loh DH, O’Donoghue JE, Tomlinson VAL, Chau Y-Y, Boyd JA, et al. Translation elongation factor eEF1A2 is essential for post-weaning survival in mice. J Biol Chem. 2007;282:28951–9. https://doi.org/10.1074/jbc.M703962200.

4. Knudsen SM, Frydenberg J, Clark BF, Leffers H. Tissue-dependent variation in the expression of elongation factor-1 alpha isoforms: isolation and characterisation of a cDNA encoding a novel variant of human elongation-factor 1 alpha. Eur J Biochem. 1993;215:549–54. https://doi.org/10.1111/j.1432-1033.1993.tb18064.x.

5. Chambers DM, Peters J, Abbott CM. The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene. Proc Natl Acad Sci USA. 1998;95:4463–8. https://doi.org/10.1073/pnas.95.8.4463.

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1. Genomic technologies identify milder presentations of Mendelian disease;European Journal of Human Genetics;2024-09

2. The eEF1A protein in cancer: Clinical significance, oncogenic mechanisms, and targeted therapeutic strategies;Pharmacological Research;2024-06

3. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study;European Journal of Human Genetics;2024-04-03