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Peters plus syndrome mutations disrupt a non-canonical ER quality control mechanism
BACKGROUND: O-Fucose is added to cysteine-rich domains called Thrombospondin type 1 repeats (TSRs) by Protein O-fucosyltransferase 2 (POFUT2) and is elongated with glucose by β3-glucosyltransferase (B3GLCT). Mutations in B3GLCT result in Peters Plus Syndrome (PPS), an autosomal recessive disorder ch...
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| Publicado no: | Curr Biol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4318717/ https://ncbi.nlm.nih.gov/pubmed/25544610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cub.2014.11.049 |
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