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Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production

Aspartylglucosaminidase (AGA) is a lysosomal hydrolase that participates in the breakdown of glycoproteins. Defects in the AGA gene result in a lysosomal storage disorder, aspartylglucosaminuria (AGU), that manifests mainly as progressive mental retardation. A number of AGU missense mutations have b...

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Detalles Bibliográficos
Autores principales: Banning, Antje, König, Jan F., Gray, Steven J., Tikkanen, Ritva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412292/
https://www.ncbi.nlm.nih.gov/pubmed/28346360
http://dx.doi.org/10.3390/ijms18040706