Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a devastating progressive disease caused by mutations in the iduronate 2-sulfatase (IDS) gene. IDS is one of the sulfatase enzymes required for lysosomal degradation of glycosaminoglycans. Mutant proteins linked to diseases ar...

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Detaylı Bibliyografya
Yayımlandı:Cell Death Dis
Asıl Yazarlar: Osaki, Yosuke, Saito, Atsushi, Kanemoto, Soshi, Kaneko, Masayuki, Matsuhisa, Koji, Asada, Rie, Masaki, Takao, Orii, Kenji, Fukao, Toshiyuki, Tomatsu, Shunji, Imaizumi, Kazunori
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2018
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057917/
https://ncbi.nlm.nih.gov/pubmed/30042467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41419-018-0871-8
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