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Human stefin B: from its structure, folding, and aggregation to its function in health and disease
Mutations in the gene for human stefin B (cystatin B) cause progressive myoclonic epilepsy type 1 (EPM1), a neurodegenerative disorder. The most common change is dodecamer repeats in the promoter region of the gene, though missense and frameshift mutations also appear. Human stefin B primarily acts...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634419/ https://www.ncbi.nlm.nih.gov/pubmed/36340691 http://dx.doi.org/10.3389/fnmol.2022.1009976 |