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Biol.", "date": "2004", "authors": "Misaghi S, Pacold ME, Blom D, Ploegh HL, Korbel GA", "reference": { "type": "PubMed", "id": "15610852", "url": "https://pubmed.ncbi.nlm.nih.gov/15610852" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96IV0-1", "protein_name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase", "gene_name": "NGLY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02890-1", "protein_name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase", "gene_name": "PNG1", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q9JI78-1", "protein_name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase", "gene_name": "Ngly1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IV0", "url": "https://www.uniprot.org/uniprotkb/Q96IV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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Erika, Kapkov\u00e1 Petra, Krokhin Oleg, Perreault H\u00e9l\u00e8ne", "reference": { "type": "PubMed", "id": "16642983", "url": "https://pubmed.ncbi.nlm.nih.gov/16642983" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96IV0-1", "protein_name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase", "gene_name": "NGLY1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IV0", "url": "https://www.uniprot.org/uniprotkb/Q96IV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 297, "start_aa": "Asn", "end_pos": 297, 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Chem.", "date": "2006", "authors": "Allen Mark D, Buchberger Alexander, Bycroft Mark", "reference": { "type": "PubMed", "id": "16807242", "url": "https://pubmed.ncbi.nlm.nih.gov/16807242" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96IV0-1", "protein_name": "Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase", "gene_name": "NGLY1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IV0", "url": "https://www.uniprot.org/uniprotkb/Q96IV0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16807242", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] 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"count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 1 }, { "field": "exact_n_linked_sites", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl", "mining_tool", "filter_code", "uniprot_canonical_ac" ] } ] }, { "title": "Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.", "journal": "Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus", "date": "2024-06", "authors": "Frater Christina H, Ruzhnikov Maura R Z, Beres Shannon, Alcorn Deborah, Shue Ann, Levy Rebecca J", "reference": { "type": "PubMed", "id": "38697387", "url": "https://pubmed.ncbi.nlm.nih.gov/38697387" }, "referenced_glycans": [], 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"field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 2 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "exact_sites", "count": 2 }, { "field": "exact_n_linked_sites", "count": 2 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.", "journal": "Annals of clinical and translational neurology", "date": "2022", "authors": "Dafsari HS, Pemberton JG, Ferrer EA, Yammine T, Farra C, Mohammadi MH, Ghayoor Karimiani E, Hashemi N, Souaid M, Sabbagh S, Najarzadeh Torbati P, Khan S, Roze E, Moreno-De-Luca A, Bertoli-Avella AM, Houlden H, Balla T, Maroofian R", "reference": { "type": "PubMed", "id": "35880319", "url": "https://pubmed.ncbi.nlm.nih.gov/35880319" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BTU6-1", "protein_name": "Phosphatidylinositol 4-kinase type 2-alpha", "gene_name": "PI4K2A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BTU6", "url": 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(M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.", "journal": "Human mutation", "date": "1999", "authors": "Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E", "reference": { "type": "PubMed", "id": "10094560", "url": "https://pubmed.ncbi.nlm.nih.gov/10094560" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05186-1", "protein_name": "Alkaline phosphatase, tissue-nonspecific isozyme", "gene_name": "ALPL", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05186", "url": "https://www.uniprot.org/uniprotkb/P05186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10094560", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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"field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Correlations of genotype and phenotype in hypophosphatasia.", "journal": "Human molecular genetics", "date": "1999", "authors": "Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E", "reference": { "type": "PubMed", "id": "10332035", "url": "https://pubmed.ncbi.nlm.nih.gov/10332035" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05186-1", "protein_name": "Alkaline phosphatase, tissue-nonspecific isozyme", "gene_name": "ALPL", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05186", "url": "https://www.uniprot.org/uniprotkb/P05186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10332035", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": 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"count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.", "journal": "Human mutation", "date": "2000", "authors": "Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E", "reference": { "type": "PubMed", "id": "10679946", "url": "https://pubmed.ncbi.nlm.nih.gov/10679946" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05186-1", "protein_name": "Alkaline phosphatase, tissue-nonspecific isozyme", "gene_name": "ALPL", 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"2000", "authors": "Mochizuki H, Saito M, Michigami T, Ohashi H, Koda N, Yamaguchi S, Ozono K", "reference": { "type": "PubMed", "id": "10834525", "url": "https://pubmed.ncbi.nlm.nih.gov/10834525" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05186-1", "protein_name": "Alkaline phosphatase, tissue-nonspecific isozyme", "gene_name": "ALPL", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05186", "url": "https://www.uniprot.org/uniprotkb/P05186" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10834525", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { 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