Article

Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of Glycosylation

2018-09-14

Abstract excerpt

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 genotype-phenotype relationships across yeast and human patients between five PMM2 loss-of-function missense mutations a...

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Literature Corpus work: e1fd97aa-c8e8-58a4-8b9c-50f96f4c4296
DOI: 10.1101/414862

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