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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Veröffentlicht in:	PLoS genetics 2017-04, Vol.13 (4), p.e1006696-e1006696
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Acetone Animals Antigens Biochemistry Biology and Life Sciences Biosynthesis Cancer Care and treatment Cell culture Clonal deletion Compartments Cytoplasm - enzymology Cytosol Data processing Defects Deglycosylation Embryos Endoplasmic reticulum Enzymes Eukaryotes Gene deletion Genes Genetic aspects Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - therapy Genetic disorders Genotype & phenotype Glycoprotein turnover Glycosylation Heart Homeostasis Hum Humans Laboratories Lethality Life sciences Lysosomes Mammals Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase - genetics Medicine and Health Sciences Mental disorders Mice Mice, Inbred C57BL Mice, Knockout Models, Animal mRNA Mutagenesis Mutation N-Acetylglucosamine Pathogenesis Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - deficiency Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - genetics Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - metabolism Peptides Physiological aspects Planck, Max Proteins Proteomics Quality control Research and Analysis Methods Research centers Residues Rodents Schizophrenia Sequence Deletion - genetics Studies Transferases Veterinary medicine
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