Associated Papers
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J et al.
Brain and Behavior, 2024
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV et al.
European Journal of Human Genetics : Ejhg, 2024
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families.
Zhang X et al.
Journal of Human Genetics, 2023
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Ibrahim N et al.
Genes, 2023
Structural basis for Gemin5 decamer-mediated mRNA binding.
Guo Q et al.
Nature Communications, 2022
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Francisco-Velilla R et al.
Life Science Alliance, 2022
Phosphorylation of T897 in the dimerization domain of Gemin5 modulates protein interactions and translation regulation.
Francisco-Velilla R et al.
Computational and Structural Biotechnology Journal, 2022
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S et al.
Nature Communications, 2021
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