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Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage
BACKGROUND: SMCHD1 is a disease modifier and a causative gene for facioscapulohumeral muscular dystrophy (FSHD) type 1 and type 2, respectively. A large variety of different mutations in SMCHD1 have been identified as causing FSHD2. In many cases, it is unclear how these mutations disrupt the normal...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090946/ https://www.ncbi.nlm.nih.gov/pubmed/30071896 http://dx.doi.org/10.1186/s13395-018-0172-z |