ArticleJournal of human genetics2026
NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis.
Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.NPJ genomic medicine · 2026Article
- C18ORF32 modulates lipid droplet secretion via secretory autophagy and restrains hepatic steatosis in vivo.Cell communication and signaling : CCS · 2025Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early-onset hippocampal sclerosis is a major cause of focal epilepsy, yet many genetic contributors remain unknown. We investigate a 12-year-old girl with recurrent focal seizures, progressive memory impairment, and MRI evidence of left hippocampal atrophy with ipsilateral parietal gliosis. Singleton exome sequencing revealed a novel homozygous NOL10 variant (NM_024894.4: c.682 A > C; p.Asn228His), absent from population and clinical databases; both parents were heterozygous carriers. The variant alters a highly conserved residue within the WD-repeat domain. Proband fibroblasts maintained normal NOL10 transcript levels but exhibited nucleoplasmic mislocalization and loss of interaction with AATF and NGDN, key partners in small ribosomal subunit biogenesis. Structural modeling and ΔΔG calculations predicted that N228H is strongly destabilizing. Functionally, proband cells showed specific impairment of 40S maturation with reduced 40S, 80S and polysome content, accompanied by G
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