Creator | Title | Description | Subject | Date | ||
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1 | Berman, Alexys | N-Glycanase 1 deficiency modeled in drosophila melanogaster | NGLY1 deficiency is a rare genetic metabolic disorder with ~ 100 reported individuals. The disorder is the only known disorder of deglycosylation and causes an inability to deglycoslate a variety of proteins. Much about NGLY1 deficiency remains unknown. This paper elucidates disease pathology of NGL... | Individuals; exacerbates | 2021 |