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animals (244) 244
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Journal of Medical Genetics, ISSN 0022-2593, 06/2012, Volume 49, Issue 6, pp. 353 - 361
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 10/2014, Volume 16, Issue 10, pp. 751 - 758
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 10/2014, Volume 16, Issue 10, pp. 736 - 737
We are the fathers of two patients with a newly diagnosed syndrome that is highlighted in the study by Enns et al.1 Our children are two among a handful of... 
GENETICS & HEREDITY | Endoplasmic Reticulum-Associated Degradation - genetics | Humans | Female | Male | Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - genetics | Signal Transduction - genetics | Mutation | Abnormalities, Multiple - genetics
Journal Article
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2017, Volume 13, Issue 4, p. e1006696
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... 
CAENORHABDITIS-ELEGANS | PATHWAY | PEPTIDE-N-GLYCANASE | GENETICS & HEREDITY | DOLICHOL-LINKED OLIGOSACCHARIDES | DISORDER | ER-ASSOCIATED DEGRADATION | NONLYSOSOMAL DEGRADATION | ENDOPLASMIC-RETICULUM | IDENTIFICATION | MAMMALIAN-CELLS | Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase - genetics | Cytoplasm - enzymology | Humans | Mice, Inbred C57BL | Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - metabolism | Genetic Diseases, Inborn - genetics | Glycosylation | Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - genetics | Genetic Diseases, Inborn - therapy | Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - deficiency | Mice, Knockout | Animals | Models, Animal | Mice | Sequence Deletion - genetics | Physiological aspects | Care and treatment | Genetic aspects | Genetic disorders | Research | Transferases | Heart | Cell culture | Peptides | Pathogenesis | Biochemistry | Lethality | Veterinary medicine | Cytosol | Proteins | Degradation | Genotype & phenotype | Eukaryotes | Clusters | Life sciences | Inhibition | Enzymes | Antigens | Data acquisition | Abnormalities | Glycoprotein turnover | Mammals | Embryos | Studies | Mutagenesis | Quality control | Mutation | Endoplasmic reticulum | Residues | N-Acetylglucosamine | Destruction | Mental disorders | Laboratories | Genes | Homeostasis | Schizophrenia | Lysosomes | mRNA | Biosynthesis | Gene deletion | Defects | Clonal deletion | Rodents | Compartments | Biodegradation | Hum | Deglycosylation | Dopamine | Data processing | Proteomics | Cancer | Acetone
Journal Article
Molecular and Cellular Proteomics, ISSN 1535-9476, 02/2016, Volume 15, Issue 2, pp. 573 - 597
Journal Article
BioEssays, ISSN 0265-9247, 03/2018, Volume 40, Issue 3, p. 1700215
Journal Article