ArticleScientific reports2020
Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 16 citations in OpenAlex.
- A two-sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy.Epilepsia open · 2026Article
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- Centriole and transition zone structures in photoreceptor cilia revealed by cryo-electron tomography.Life science alliance · 2024Article
- Native doublet microtubules from Tetrahymena thermophila reveal the importance of outer junction proteins.Nature communications · 2023Article
- Novel kinetoplastid-specific cAMP binding proteins identified by RNAi screening for cAMP resistance inFrontiers in cellular and infection microbiology · 2023Article
- Cholesterol and Phosphoinositides in Cilia Biology.Advances in experimental medicine and biology · 2023Review
- Electron cryo-tomography structure of axonemal doublet microtubule fromLife science alliance · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
EFHC1 gene encodes the myoclonin1 protein, also known as Rib72-1. Pathogenic variants in EFHC1 have been reported in patients with juvenile myoclonic epilepsy (JME). Although several studies of immunohistological investigations reproducibly showed that the myoclonin1 is expressed in cells with flagella and motile cilia such as sperm, trachea and ependymal cells lining the brain ventricles, whether myoclonin1 is also expressed in neurons still remains controversial. Here we investigated myoclonin1 expression using widely-used polyclonal (mRib72-pAb) and self-made monoclonal (6A3-mAb) anti-myoclonin1 antibodies together with Efhc1 homozygous knock-out (Efhc1
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