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Article

Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.

The Journal of biological chemistry - 1 Jul 2021

Zhang Ao, Venkat Aarya, Taujale Rahil, Mull James L, Ito Atsuko, Kannan Natarajan, Haltiwanger Robert S

Abstract excerpt

Peters Plus Syndrome (PTRPLS OMIM #261540) is a severe congenital disorder of glycosylation where patients have multiple structural anomalies, including Peters anomaly of the eye (anterior segment dysgenesis), disproportionate short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable additional abnormalities. PTRPLS patients and some Peters Plus-like (PTRPLS-like) patients (who...

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Identifiers

PMID: 34058199
DOI: 10.1016/j.jbc.2021.100843
PMCID: PMC8233153

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