Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01184-8.pdf
Reference20 articles.
1. Matera AG, Raimer AC, Schmidt CA, Kelly JA, Droby GN, Baillat D, et al. Composition of the survival motor neuron (SMN) complex in Drosophila melanogaster. G3 (Bethesda). 2019;9:491–503.
2. Francisco-Velilla R, Embarc-Buh A, Rangel-Guerrero S, Basu S, Kundu S, Martinez-Salas E. RNA-protein coevolution study of Gemin5 uncovers the role of the PXSS motif of RBS1 domain for RNA binding. RNA Biol. 2020;17:1331–41.
3. Saida K, Tamaoki J, Sasaki M, Haniffa M, Koshimizu E, Sengoku T, et al. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clin Genet. 2021;100:722–30.
4. Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, et al. Autosomal recessive cerebellar atrophy and spastic ataxia in patients with pathogenic biallelic variants in GEMIN5. Front Cell Dev Biol. 2022;10:783762.
5. Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021;12:2558.
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Alternative splicing events driven by altered levels of GEMIN5 undergo translation;RNA Biology;2024-08-28
2. Oligomerization regulates the interaction of Gemin5 with members of the SMN complex and the translation machinery;Cell Death Discovery;2024-06-28
3. Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder;Neural Regeneration Research;2024-01-31
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