Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain

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 flage...

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Detalles Bibliográficos
Autores principales: Suzuki, Toshimitsu, Inoue, Ikuyo, Yamakawa, Kazuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744795/
https://www.ncbi.nlm.nih.gov/pubmed/33328576
http://dx.doi.org/10.1038/s41598-020-79202-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744795/
https://www.ncbi.nlm.nih.gov/pubmed/33328576
http://dx.doi.org/10.1038/s41598-020-79202-4

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