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| Both sides previous revision Previous revision Next revision | Previous revision | ||
| ngly1_deficiency [2025/03/11 02:26] – Scott Larson | ngly1_deficiency [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
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| * Nystagmus- rare | * Nystagmus- rare | ||
| ====Other Findings==== | ====Other Findings==== | ||
| - | * increased | + | * Increased |
| - | * polyneuropathy | + | * Polyneuropathy |
| ====Etiology==== | ====Etiology==== | ||
| * Autosomal Recessive | * Autosomal Recessive | ||
| - | * loss-of-function variants of the NGLY1 encoding N-glycanase 1 | + | * Loss-of-function variants of the NGLY1 encoding N-glycanase 1 |
| * an enzyme that removes the sugar moiety from proteins | * an enzyme that removes the sugar moiety from proteins | ||
| * cleaves N-glycans to generate deglycosylated proteins and oligosaccharides containing 1-amino-GlcNac | * cleaves N-glycans to generate deglycosylated proteins and oligosaccharides containing 1-amino-GlcNac | ||
| * degrades misfolded proteins in the endoplasmic reticulum | * degrades misfolded proteins in the endoplasmic reticulum | ||
| ====Resources==== | ====Resources==== | ||
| - | * [[link|Title]] | + | * {{ :: |
| {{tag> | {{tag> | ||