Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome

Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from recessive mutations affecting the glucosyltransferase B3GLCT, leading to congenital corneal opacity and diverse extra-ocular manifestations. Together with the fucosyltransferase POFUT2, B3GLCT adds Glucoseβ1-3Fucose dis...

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Detalles Bibliográficos
Autores principales: Dubail, Johanne, Vasudevan, Deepika, Wang, Lauren W., Earp, Sarah E., Jenkins, Michael W., Haltiwanger, Robert S., Apte, Suneel S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043182/
https://www.ncbi.nlm.nih.gov/pubmed/27687499
http://dx.doi.org/10.1038/srep33974

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043182/
https://www.ncbi.nlm.nih.gov/pubmed/27687499
http://dx.doi.org/10.1038/srep33974

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