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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy

Abstract Progressive myoclonus epilepsy (PME) of Unverricht–Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder with the highest incidence of PME worldwide. Mutations in the gene encoding cystatin B (CSTB) are the primary genetic cause of EPM1. Here, we investigate the role of...

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Kaydedildi:
Asıl Yazarlar: Francesco Di Matteo, Fabrizia Pipicelli, Christina Kyrousi, Isabella Tovecci, Eduardo Penna, Marianna Crispino, Angela Chambery, Rosita Russo, Ane Cristina Ayo‐Martin, Martina Giordano, Anke Hoffmann, Emilio Ciusani, Laura Canafoglia, Magdalena Götz, Rossella Di Giaimo, Silvia Cappello
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Nature 2020-05-01
Seri Bilgileri:EMBO Molecular Medicine
Konular:
cystatin B
EPM1
interneuron migration
neurogenesis
secretion
Online Erişim:https://doi.org/10.15252/emmm.201911419
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