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mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.", "journal": "PloS one", "date": "2024", "authors": "Parvand Mahraz, Liang Joseph J H, Bozorgmehr Tahereh, Born Dawson, Luna Cortes Alvaro, Rankin Catharine H", "reference": { "type": "PubMed", "id": "39240956", "url": "https://pubmed.ncbi.nlm.nih.gov/39240956" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49768-1", "protein_name": "Presenilin-1", "gene_name": "PSEN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49768", "url": "https://www.uniprot.org/uniprotkb/P49768" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39240956", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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Houlden H, Ruiz A, Ossa J, Lopera F, Arcos M, Madrigal L, Collinge J, Humphreys C, Ashworth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Phillips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Vitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowden J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A", "reference": { "type": "PubMed", "id": "7550356", "url": "https://pubmed.ncbi.nlm.nih.gov/7550356" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49768-1", "protein_name": "Presenilin-1", "gene_name": "PSEN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49768", "url": "https://www.uniprot.org/uniprotkb/P49768" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7550356", "abstract": "", "glycosylation": [], 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J. Hum. Genet.", "date": "1999", "authors": "Dermaut B, Cruts M, Slooter A J, Van Gestel S, De Jonghe C, Vanderstichele H, Vanmechelen E, Breteler M M, Hofman A, van Duijn C M, Van Broeckhoven C", "reference": { "type": "PubMed", "id": "9915968", "url": "https://pubmed.ncbi.nlm.nih.gov/9915968" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P49768-1", "protein_name": "Presenilin-1", "gene_name": "PSEN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P49768", "url": "https://www.uniprot.org/uniprotkb/P49768" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9915968", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Reduced amyloid-beta protein 42 secretion.", "evidence": [ { "database": "UniProtKB", "id": "P05067", "url": "https://www.uniprot.org/uniprotkb/P05067" }, { "database": "PubMed", "id": "10383380", "url": "https://pubmed.ncbi.nlm.nih.gov/10383380" }, { "database": "PubMed", "id": "11724784", "url": "https://pubmed.ncbi.nlm.nih.gov/11724784" }, { "database": "PubMed", "id": "8887653", "url": "https://pubmed.ncbi.nlm.nih.gov/8887653" }, { "database": "PubMed", "id": "11877420", "url": "https://pubmed.ncbi.nlm.nih.gov/11877420" } ], "uniprot_canonical_ac": "P05067-1" }, { "start_pos": 757, "end_pos": 757, "sequence_org": "Y", "sequence_mut": "G", "comment": "Loss of binding to MAPK8IP1, APBA1, APBB1, APPBP2 and SHC1.", "evidence": [ { "database": "UniProtKB", "id": "P05067", "url": "https://www.uniprot.org/uniprotkb/P05067" }, { "database": "PubMed", "id": "10383380", "url": "https://pubmed.ncbi.nlm.nih.gov/10383380" }, { "database": "PubMed", "id": "11724784", "url": "https://pubmed.ncbi.nlm.nih.gov/11724784" }, { "database": "PubMed", "id": "8887653", "url": "https://pubmed.ncbi.nlm.nih.gov/8887653" }, { "database": "PubMed", "id": "11877420", "url": "https://pubmed.ncbi.nlm.nih.gov/11877420" } ], "uniprot_canonical_ac": "P05067-1" }, { "start_pos": 759, "end_pos": 759, "sequence_org": "N", "sequence_mut": "A", "comment": "No binding to APBA1, no effect on APBB1 binding. Little APP internalization. Reduced amyloid-beta protein 42 secretion.", "evidence": [ { "database": "UniProtKB", "id": "P05067", "url": "https://www.uniprot.org/uniprotkb/P05067" }, { "database": "PubMed", "id": "10383380", "url": "https://pubmed.ncbi.nlm.nih.gov/10383380" }, { "database": "PubMed", "id": "8887653", "url": "https://pubmed.ncbi.nlm.nih.gov/8887653" } ], "uniprot_canonical_ac": "P05067-1" }, { "start_pos": 762, "end_pos": 762, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of binding to APBA1 and APBB1. APP internalization unchanged. No change in amyloid-beta protein 42 secretion.", "evidence": [ { "database": "UniProtKB", "id": "P05067", "url": "https://www.uniprot.org/uniprotkb/P05067" }, { "database": "PubMed", "id": "10383380", "url": "https://pubmed.ncbi.nlm.nih.gov/10383380" }, { "database": "PubMed", "id": "8887653", "url": "https://pubmed.ncbi.nlm.nih.gov/8887653" } ], "uniprot_canonical_ac": "P05067-1" } ], "record_id": "pubmed.8887653", "abstract": "", "glycosylation": [], "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": 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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": "Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.", "journal": "Circulation", "date": "1999", "authors": "Mathur A, Sims HF, 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