Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene

The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1-deficiency). While the enzyme obviously has a critic...

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Dades bibliogràfiques
Publicat a:PLoS Genet
Autors principals: Fujihira, Haruhiko, Masahara-Negishi, Yuki, Tamura, Masaru, Huang, Chengcheng, Harada, Yoichiro, Wakana, Shigeharu, Takakura, Daisuke, Kawasaki, Nana, Taniguchi, Naoyuki, Kondoh, Gen, Yamashita, Tadashi, Funakoshi, Yoko, Suzuki, Tadashi
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5398483/
https://ncbi.nlm.nih.gov/pubmed/28426790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006696
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