A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome-Reference-Cited by-同舟云学术

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A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome

Published:2022-06-21 Issue:10 Volume:67 Page:589-594
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Wu Tenghui,Mao Leilei,Chen Chen,Yin Fei,Peng Jing

Funder

the National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-022-01056-7.pdf

Reference19 articles.

1. Ohkubo A, Van Haute L, Rudler DL, Stentenbach M, Steiner FA, Rackham O. et al. The FASTK family proteins fine-tune mitochondrial RNA processing. Plos Genet. 2021;17:e1009873. https://doi.org/10.1371/journal.pgen.1009873.

2. Popow J, Alleaume AM, Curk T, Schwarzl T, Sauer S, Hentze MW. FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation. RNA. 2015;21:1873–84. https://doi.org/10.1261/rna.052365.115.

3. Jourdain AA, Popow J, de la Fuente MA, Martinou JC, Anderson P, Simarro M. The FASTK family of proteins: emerging regulators of mitochondrial RNA biology. Nucleic Acids Res. 2017;45:10941–7. https://doi.org/10.1093/nar/gkx772.

4. Boehm E, Zaganelli S, Maundrell K, Jourdain AA, Thore S, Martinou JC. FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain. Nucleic Acids Res. 2017;45:6135–46. https://doi.org/10.1093/nar/gkx164.

5. Boehm E, Zornoza M, Jourdain AA, Delmiro Magdalena A, García-Consuegra I, Torres Merino R. et al. Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional regulation of mitochondrial gene expression. J Biol Chem. 2016;291:25877–87. https://doi.org/10.1074/jbc.M116.730291.

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