Associated Papers
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.
Nou-Fontanet L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.
Dai Y et al.
Nature Communications, 2025
40268917 (PubMed )
Supplement: 41467_2025_58894_MOESM3_ESM.xlsx › 1._SPATA5
The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity.
Krishnamoorthy V et al.
Cell, 2024
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S et al.
European Journal of Human Genetics : Ejhg, 2018
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ et al.
American Journal of Human Genetics, 2015
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