Antonio Galeone
NGLY1 (N-glycanase 1) encodes an evolutionarily conserved enzyme that catalyzes the cleavage of N-glycans from glycoproteins. Mutations in human NGLY1 cause a rare congenital disorder with severe developmental delay, delayed bone age and osteopenia, gastrointestinal dysfunction, small hands/feet and absent tears. However, the mechanism by which NGLY1 deficiency causes the above-mentioned clinical phenotypes is not known, and neither has NGLY1 been linked to any major developmental signaling pathway. Here we show that Drosophila Pngl encodes an Nglycanase and exhibits a high degree of functional conservation with human NGLY1. Loss of Pngl results in developmental midgut defects reminiscent of midgut-specific loss of BMP signaling. Tissuespecific knock-down and rescue exp
ఈ కథనాన్ని భాగస్వామ్యం చేయండి
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