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A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Seyama K, Nukiwa T, Takabe K, Takahashi H, Miyake K, Kira S", "reference": { "type": "PubMed", "id": "1905728", "url": "https://pubmed.ncbi.nlm.nih.gov/1905728" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1905728", "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": "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "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_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": "Characterization of a 54 kDa, alpha 1-antitrypsin-like protein isolated from ascitic fluid of an endometrial cancer patient.", "journal": "Jpn. J. Cancer Res.", "date": "1991", "authors": "Tanaka N, Sekiya S, Takamizawa H, Kato N, Moriyama Y, Fujimura S", "reference": { "type": "PubMed", "id": "1906855", "url": "https://pubmed.ncbi.nlm.nih.gov/1906855" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1906855", "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": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of the molecular basis of the alpha 1-antitrypsin F allele.", "journal": "American journal of human genetics", "date": "1991", "authors": "Okayama H, Brantly M, Holmes M, Crystal RG", "reference": { "type": "PubMed", "id": "2035534", "url": "https://pubmed.ncbi.nlm.nih.gov/2035534" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2035534", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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bladder." }, "name_list": [ "urinary bladder cancer", "bladder cancer", "tumor of the bladder", "tumour of the bladder", "bladder cancer, somatic", "cancer of urinary bladder", "malignant bladder neoplasm", "malignant bladder tumor", "malignant bladder tumour", "malignant neoplasm of bladder", "malignant neoplasm of the bladder", "malignant neoplasm of the urinary bladder", "malignant neoplasm of urinary bladder", "malignant neoplasm, bladder", "malignant neoplasm, urinary bladder", "malignant tumor of bladder", "malignant tumor of the bladder", "malignant tumor of the urinary bladder", "malignant tumor of urinary bladder", "malignant tumor, urinary bladder", "malignant tumour of bladder", "malignant tumour of the bladder", "malignant tumour of the urinary bladder", "malignant tumour of urinary bladder", "malignant urinary bladder neoplasm", "malignant urinary bladder tumor", "malignant urinary bladder tumour", "urinary bladder malignant neoplasm", "urinary bladder malignant tumor", 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(Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).", "journal": "Human genetics", "date": "1990", "authors": "Graham A, Kalsheker NA, Bamforth FJ, Newton CR, Markham AF", "reference": { "type": "PubMed", "id": "2227940", "url": "https://pubmed.ncbi.nlm.nih.gov/2227940" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2227940", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"icn3d_view.label", "icn3d_view.url" ] } ] }, { "title": "Cell-specific expression of a transfected human alpha 1-antitrypsin gene.", "journal": "Cell", "date": "1985", "authors": "Ciliberto G, Dente L, Cortese R", "reference": { "type": "PubMed", "id": "2985281", "url": "https://pubmed.ncbi.nlm.nih.gov/2985281" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2985281", "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": "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": 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"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": "Characterization of the gene and protein of the alpha 1-antitrypsin `deficiency` allele Mprocida.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Takahashi H, Nukiwa T, Satoh K, Ogushi F, Brantly M, Fells G, Stier L, Courtney M, Crystal RG", "reference": { "type": "PubMed", "id": "3262617", "url": "https://pubmed.ncbi.nlm.nih.gov/3262617" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": 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Biol. Chem.", "date": "1986", "authors": "Nukiwa T, Satoh K, Brantly M L, Ogushi F, Fells G A, Courtney M, Crystal R G", "reference": { "type": "PubMed", "id": "3491072", "url": "https://pubmed.ncbi.nlm.nih.gov/3491072" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3491072", "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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9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3533918", "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": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", 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"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": "Cloning and expression in Escherichia coli of full-length complementary DNA coding for human alpha 1-antitrypsin.", "journal": "DNA", "date": "1983", "authors": "Bollen A, Herzog A, Cravador A, H\u00e9rion P, Chuchana P, Vander Straten A, Loriau R, Jacobs P, van Elsen A", "reference": { "type": "PubMed", "id": "6319097", "url": "https://pubmed.ncbi.nlm.nih.gov/6319097" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6319097", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function.", "journal": "J. Mol. Biol.", "date": "1984", "authors": "Loebermann H, Tokuoka R, Deisenhofer J, Huber R", "reference": { "type": "PubMed", "id": "6332197", "url": "https://pubmed.ncbi.nlm.nih.gov/6332197" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6332197", "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", 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II. 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structural analysis on the sugar chains of human alpha 1-antitrypsin: presence of fucosylated biantennary glycan in hepatocellular carcinoma.", "journal": "Archives of biochemistry and biophysics", "date": "1993", "authors": "Saitoh A, Aoyagi Y, Asakura H", "reference": { "type": "PubMed", "id": "8390218", "url": "https://pubmed.ncbi.nlm.nih.gov/8390218" }, "referenced_glycans": [ { "glytoucan_ac": "G36191CD" }, { "glytoucan_ac": "G84467IZ" }, { "glytoucan_ac": "G78059CC" }, { "glytoucan_ac": "G50045TK" }, { "glytoucan_ac": "G92821YI" }, { "glytoucan_ac": "G10179FS" }, { "glytoucan_ac": "G23863VK" }, { "glytoucan_ac": "G16768LX" } ], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Inhibitory conformation of the reactive loop of alpha 1-antitrypsin.", "journal": "Nat. Struct. Biol.", "date": "1996", "authors": "Elliott P R, Lomas D A, Carrell R W, Abrahams J P", "reference": { "type": "PubMed", "id": "8756325", "url": "https://pubmed.ncbi.nlm.nih.gov/8756325" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01009-1", "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprotkb/P01009" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8756325", "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", 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"journal": "Journal of inherited metabolic disease", "date": "2001", "authors": "Albers S, Levy HL, Irons M, Strauss AW, Marsden D", "reference": { "type": "PubMed", "id": "11486912", "url": "https://pubmed.ncbi.nlm.nih.gov/11486912" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11310-1", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11310", "url": "https://www.uniprot.org/uniprotkb/P11310" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11486912", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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genetics", "date": "1991", "authors": "Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K", "reference": { "type": "PubMed", "id": "1684086", "url": "https://pubmed.ncbi.nlm.nih.gov/1684086" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11310-1", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11310", "url": "https://www.uniprot.org/uniprotkb/P11310" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1684086", "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 } ], "sort_fields": [] } ] }, { "title": "Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.", "journal": "Human genetics", "date": "1991", "authors": "Gregersen N, Andresen BS, Bross P, Winter V, Rudiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kolvraa S, et al.", "reference": { "type": "PubMed", "id": "1902818", "url": "https://pubmed.ncbi.nlm.nih.gov/1902818" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11310-1", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11310", "url": "https://www.uniprot.org/uniprotkb/P11310" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo 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"date": "1990", "authors": "Bross P, Engst S, Strauss AW, Kelly DP, Rasched I, Ghisla S", "reference": { "type": "PubMed", "id": "1970566", "url": "https://pubmed.ncbi.nlm.nih.gov/1970566" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11310-1", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11310", "url": "https://www.uniprot.org/uniprotkb/P11310" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 401, "end_pos": 401, "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of acyl-CoA dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "P11310", "url": "https://www.uniprot.org/uniprotkb/P11310" }, { "database": "PubMed", "id": "1970566", "url": 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Sciences of the United States of America", "date": "1990", "authors": "Kelly DP, Whelan AJ, Ogden ML, Alpers R, Zhang ZF, Bellus G, Gregersen N, Dorland L, Strauss AW", "reference": { "type": "PubMed", "id": "2251268", "url": "https://pubmed.ncbi.nlm.nih.gov/2251268" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P11310-1", "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADM", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11310", "url": "https://www.uniprot.org/uniprotkb/P11310" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2251268", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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