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Genet.", "date": "2002", "authors": "Kallijarvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE", "reference": { "type": "PubMed", "id": "11938494", "url": "https://pubmed.ncbi.nlm.nih.gov/11938494" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94972-1", "protein_name": "E3 ubiquitin-protein ligase TRIM37", "gene_name": "TRIM37", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94972", "url": "https://www.uniprot.org/uniprotkb/O94972" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11938494", "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": "A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.", "journal": "Hum. 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], "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": "Functional and pharmacological characterization of human Na(+)-carnitine cotransporter hOCTN2.", "journal": "American journal of physiology. 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Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Fiermonte G, Dolce V, Palmieri L, Ventura M, Runswick MJ, Palmieri F, Walker JE", "reference": { "type": "PubMed", "id": "11083877", "url": "https://pubmed.ncbi.nlm.nih.gov/11083877" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14894-1", "protein_name": "Ketimine reductase mu-crystallin", "gene_name": "CRYM", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQT8-1", "protein_name": "Mitochondrial 2-oxodicarboxylate carrier", "gene_name": "SLC25A21", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IUZ5-1", "protein_name": "5-phosphohydroxy-L-lysine phospho-lyase", "gene_name": "PHYKPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P0Z9-1", "protein_name": "Peroxisomal sarcosine oxidase", "gene_name": "PIPOX", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21399-1", "protein_name": "Cytoplasmic aconitate hydratase", "gene_name": "ACO1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A2RU49-1", "protein_name": "Hydroxylysine kinase", "gene_name": "HYKK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92947-1", "protein_name": "Glutaryl-CoA dehydrogenase, mitochondrial", "gene_name": "GCDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75874-1", "protein_name": "Isocitrate dehydrogenase [NADP] cytoplasmic", "gene_name": "IDH1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99JD3-1", "protein_name": "Mitochondrial 2-oxodicarboxylate carrier", "gene_name": "Slc25a21", "tax_name": "Rat" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UDR5-1", "protein_name": "Alpha-aminoadipic semialdehyde synthase, mitochondrial", "gene_name": "AASS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49419", "url": "https://www.uniprot.org/uniprotkb/P49419" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11083877", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 12 } ], "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": 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"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": "Functional expression and processing of rat choline dehydrogenase precursor.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Huang S, Lin Q", "reference": { "type": "PubMed", "id": "12951056", "url": "https://pubmed.ncbi.nlm.nih.gov/12951056" 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"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": 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II. Components of the choline oxidase system and the site of action of amytal.", "journal": "The Journal of biological chemistry", "date": "1960", "authors": "PACKER L, ESTABROOK RW, SINGER TP, KIMURA T", "reference": { "type": "PubMed", "id": "14429690", "url": "https://pubmed.ncbi.nlm.nih.gov/14429690" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL12-1", "protein_name": "Sarcosine dehydrogenase, mitochondrial", "gene_name": "SARDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NE62-1", "protein_name": "Choline dehydrogenase, mitochondrial", "gene_name": "CHDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWI5-1", "protein_name": "Choline 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"total", "count": 8 } ], "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": 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"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 }, { 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"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": "Crystal structure of human micro-crystallin complexed with NADPH.", "journal": "Protein science : a publication of the Protein Society", "date": "2007", "authors": "Cheng Z, Sun L, He J, Gong W", "reference": { "type": "PubMed", "id": "17242435", "url": "https://pubmed.ncbi.nlm.nih.gov/17242435" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": 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"date": "2009", "authors": "Michel V, Bakovic M", "reference": { "type": "PubMed", "id": "19357133", "url": "https://pubmed.ncbi.nlm.nih.gov/19357133" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6X893-1", "protein_name": "Choline transporter-like protein 1", "gene_name": "Slc44a1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9UL12-1", "protein_name": "Sarcosine dehydrogenase, mitochondrial", "gene_name": "SARDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NE62-1", "protein_name": "Choline dehydrogenase, mitochondrial", "gene_name": "CHDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWI5-1", "protein_name": "Choline transporter-like protein 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reactive aldehyde and oxidative stress induced cytotoxicity.", "journal": "Chemico-biological interactions", "date": "2011-05-30", "authors": "Brocker Chad, Cantore Miriam, Failli Paola, Vasiliou Vasilis", "reference": { "type": "PubMed", "id": "21338592", "url": "https://pubmed.ncbi.nlm.nih.gov/21338592" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49419", "url": "https://www.uniprot.org/uniprotkb/P49419" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21338592", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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[9606]" } ], "record_id": "pubmed.31492851", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "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 } 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"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": "Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.", "journal": "Journal of inherited metabolic disease", "date": "2020", "authors": "Laciak AR, Korasick DA, Gates KS, Tanner JJ", "reference": { "type": "PubMed", "id": "31652343", "url": "https://pubmed.ncbi.nlm.nih.gov/31652343" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49419", "url": "https://www.uniprot.org/uniprotkb/P49419" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31652343", "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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"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": "The impact of ALDH7A1 variants in oral cancer development and prognosis.", "journal": "Aging", "date": "2022", "authors": "Lu HJ, Chuang CY, Chen MK, Su CW, Yang WE, Yeh CM, Lai KM, Tang CH, Lin CW, Yang SF", "reference": { "type": "PubMed", "id": "35613852", "url": "https://pubmed.ncbi.nlm.nih.gov/35613852" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde 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"field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.", "journal": "Chemico-biological interactions", "date": "2024-05-01", "authors": "Korasick David A, Buckley David P, Palpacelli Alessandra, Cursio Ida, Cesaroni Elisabetta, Cheng Jianlin, Tanner John J", "reference": { "type": "PubMed", "id": "38604394", "url": "https://pubmed.ncbi.nlm.nih.gov/38604394" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49419", "url": "https://www.uniprot.org/uniprotkb/P49419" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo 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Flavoprotein nature and enzymatic properties of the purified proteins.", "journal": "The Journal of biological chemistry", "date": "1981", "authors": "Wittwer AJ, Wagner C", "reference": { "type": "PubMed", "id": "6163778", "url": "https://pubmed.ncbi.nlm.nih.gov/6163778" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9H015-1", "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UL12-1", "protein_name": "Sarcosine dehydrogenase, mitochondrial", "gene_name": "SARDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NE62-1", "protein_name": "Choline dehydrogenase, mitochondrial", "gene_name": "CHDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWI5-1", "protein_name": "Choline transporter-like protein 1", "gene_name": "SLC44A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UI17-1", "protein_name": "Dimethylglycine dehydrogenase, mitochondrial", "gene_name": "DMGDH", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IWA5-1", "protein_name": "Choline transporter-like protein 2", "gene_name": "SLC44A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q93088-1", "protein_name": "Betaine--homocysteine S-methyltransferase 1", "gene_name": "BHMT", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q64380-1", "protein_name": "Sarcosine dehydrogenase, mitochondrial", "gene_name": "Sardh", "tax_name": "Rat" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49419", "url": "https://www.uniprot.org/uniprotkb/P49419" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6163778", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "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": "Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Markovitz PJ, Chuang DT, Cox RP", "reference": { "type": "PubMed", "id": "6434529", "url": "https://pubmed.ncbi.nlm.nih.gov/6434529" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49419-1", "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14894-1", "protein_name": "Ketimine reductase mu-crystallin", "gene_name": "CRYM", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BQT8-1", "protein_name": "Mitochondrial 2-oxodicarboxylate carrier", "gene_name": "SLC25A21", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IUZ5-1", "protein_name": "5-phosphohydroxy-L-lysine phospho-lyase", "gene_name": "PHYKPL", "tax_name": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.", "journal": "American journal of human genetics", "date": "2010", "authors": "Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M", "reference": { "type": "PubMed", "id": "20362274", "url": "https://pubmed.ncbi.nlm.nih.gov/20362274" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95831-1", "protein_name": "Apoptosis-inducing factor 1, mitochondrial", "gene_name": "AIFM1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprotkb/O95831" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20362274", "abstract": "", "glycosylation": [], "mutagenesis": 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metabolism", "date": "2011", "authors": "Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, Raas-Rothschild A, Nadjari M, Kaestner KH, Elpeleg O", "reference": { "type": "PubMed", "id": "22019070", "url": "https://pubmed.ncbi.nlm.nih.gov/22019070" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95831-1", "protein_name": "Apoptosis-inducing factor 1, mitochondrial", "gene_name": "AIFM1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95831", "url": "https://www.uniprot.org/uniprotkb/O95831" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22019070", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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