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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Udgivet i:Curr Biol
Main Authors: Vasudevan, Deepika, Takeuchi, Hideyuki, Johar, Sumreet Singh, Majerus, Elaine, Haltiwanger, Robert S.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang: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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