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Structural basis of a point mutation that causes the genetic disease Aspartylglucosaminuria
Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by a metabolic disorder of lysosomes to digest Asn-linked glycoproteins. The specific enzyme linked to AGU is a lysosomal hydrolase called glycosylasparaginase. Crystallographic studies revealed that a surface loop blocks the catalyt...
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| Publicado no: | Structure |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4271792/ https://ncbi.nlm.nih.gov/pubmed/25456816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.str.2014.09.014 |
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