CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
https://www.nature.com/articles/s41434-023-00433-x.pdf
Reference45 articles.
1. Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kalviainen R, et al. Unverricht-Lundborg disease. Epileptic Disord. 2016;18:28–37.
2. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature. 1997;386:847–51.
3. Joensuu T, Lehesjoki AE, Kopra O. Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia. 2008;49:557–63.
4. Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, et al. CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. Neurology. 2016;86:877–8.
5. O’Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet. 2017;25:775–8.
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