Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally. PMM2 orthologs are present in model organisms, including the budding yeast Saccharomyces cerevisiae gene SEC53. Here we describe conserved geno...

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Bibliographische Detailangaben
Veröffentlicht in:G3 (Bethesda)
Hauptverfasser: Lao, Jessica P., DiPrimio, Nina, Prangley, Madeleine, Sam, Feba S., Mast, Joshua D., Perlstein, Ethan O.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Genetics Society of America 2018
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Investigations
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6385982/
https://ncbi.nlm.nih.gov/pubmed/30530630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.118.200934
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