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The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is an inherited disease caused by mutations in a lysosomal amidase called aspartylglucosaminidase (AGA) or glycosylasparaginase (GA). This disorder results in an accumulation of glycoasparagines in the lysosomes of virtually all cell types, with severe clinical symptoms...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Protein Sci
Main Authors: Pande, Suchita, Guo, Hwai‐Chen
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6511735/
https://ncbi.nlm.nih.gov/pubmed/30901125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pro.3607
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