Reduced levels of DEAD-box proteins DBP-RB and p72 in fetal Down syndrome brains - PubMed (original) (raw)

DEAD-box helicase 17 (DDX17) protects cardiac function by promoting mitochondrial homeostasis in heart failure.

Yan M, Gao J, Lan M, Wang Q, Cao Y, Zheng Y, Yang Y, Li W, Yu X, Huang X, Dou L, Liu B, Liu J, Cheng H, Ouyang K, Xu K, Sun S, Liu J, Tang W, Zhang X, Man Y, Sun L, Cai J, He Q, Tang F, Li J, Shen T. Yan M, et al. Signal Transduct Target Ther. 2024 May 24;9(1):127. doi: 10.1038/s41392-024-01831-2. Signal Transduct Target Ther. 2024. PMID: 38782919 Free PMC article.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.