[ { "title": "A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.", "journal": "Neuromuscular disorders : NMD", "date": "2003", "authors": "Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW", "reference": { "type": "PubMed", "id": "12921794", "url": "https://pubmed.ncbi.nlm.nih.gov/12921794" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96RR1-1", "protein_name": "Twinkle mtDNA helicase", "gene_name": "TWNK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96RR1", "url": "https://www.uniprot.org/uniprotkb/Q96RR1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12921794", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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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": "TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Korhonen JA, Gaspari M, Falkenberg M", "reference": { "type": "PubMed", "id": "12975372", "url": "https://pubmed.ncbi.nlm.nih.gov/12975372" }, "referenced_glycans": [], "referenced_proteins": [ { 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C10Orf2 mutation with probable germline mosaicism.", "journal": "Neurology", "date": "2005", "authors": "Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF", "reference": { "type": "PubMed", "id": "15668446", "url": "https://pubmed.ncbi.nlm.nih.gov/15668446" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96RR1-1", "protein_name": "Twinkle mtDNA helicase", "gene_name": "TWNK", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96RR1", "url": "https://www.uniprot.org/uniprotkb/Q96RR1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15668446", "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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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The downregulation of onzin expression by PKCepsilon-ERK2 signaling and its potential role in AML cell differentiation.", "journal": "Leukemia", "date": "2010", "authors": "Wu SF, Huang Y, Hou JK, Yuan TT, Zhou CX, Zhang J, Chen GQ", "reference": { "type": "PubMed", "id": "20072156", "url": "https://pubmed.ncbi.nlm.nih.gov/20072156" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NZF1-1", "protein_name": "Placenta-specific gene 8 protein", "gene_name": "PLAC8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZF1", "url": "https://www.uniprot.org/uniprotkb/Q9NZF1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20072156", "abstract": "", "glycosylation": [], 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"common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 123, "end_pos": 123, "sequence_org": "W", "sequence_mut": "A", "comment": "Disruption of membrane localization and impaired interaction with CK2. Loss of phospholipid binding; when associated with C-42. Loss of phospholipid binding; when associated with C-44. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with C-42 and C-44.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL0", "url": "https://www.uniprot.org/uniprotkb/Q53GL0" }, { "database": "PubMed", "id": "15254037", "url": "https://pubmed.ncbi.nlm.nih.gov/15254037" } ], "uniprot_canonical_ac": "Q53GL0-1" }, { "start_pos": 42, "end_pos": 42, "sequence_org": "K", "sequence_mut": "C", "comment": "No effect on subcellular localization. No effect on subcellular localization; when associated with C-44. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with W-123. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with C-44 and W-123.", "evidence": [ { "database": "UniProtKB", "id": "Q53GL0", "url": "https://www.uniprot.org/uniprotkb/Q53GL0" }, { "database": "PubMed", "id": "15254037", "url": "https://pubmed.ncbi.nlm.nih.gov/15254037" } ], "uniprot_canonical_ac": "Q53GL0-1" }, { "start_pos": 44, "end_pos": 44, "sequence_org": "R", "sequence_mut": "C", "comment": "No effect on subcellular localization. No effect on subcellular localization; when associated with C-42. Disruption of membrane localization, loss of phospholipid binding and impaired interaction with CK2; when associated with W-123. 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