Abstract:
:N-Glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N-linked glycoproteins retrotranslocated into the cytosol. We identified nine cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima (absence of tears). The mutations in NGLY1 resulted in the absence of N-glycanase 1 protein in patient-derived fibroblasts. Applying a recently established cellular deglycosylation-dependent Venus fluorescence assay, we found that patient fibroblasts had dramatically reduced fluorescence, indicating a pronounced reduction in N-glycanase enzymatic activity. Using this assay, we could find no evidence of other related activities. Our findings reveal that NGLY1 mutations destroy both N-glycanase 1 protein and enzymatic activity.
journal_name
Glycobiologyjournal_title
Glycobiologyauthors
He P,Grotzke JE,Ng BG,Gunel M,Jafar-Nejad H,Cresswell P,Enns GM,Freeze HHdoi
10.1093/glycob/cwv024subject
Has Abstractpub_date
2015-08-01 00:00:00pages
836-44issue
8eissn
0959-6658issn
1460-2423pii
cwv024journal_volume
25pub_type
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