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Molecular basis of disease", "date": "2017", "authors": "Cali T, Frizzarin M, Luoni L, Zonta F, Pantano S, Cruz C, Bonza MC, Bertipaglia I, Ruzzene M, De Michelis MI, Damiano N, Marin O, Zanni G, Zanotti G, Brini M, Lopreiato R, Carafoli E", "reference": { "type": "PubMed", "id": "27632770", "url": "https://pubmed.ncbi.nlm.nih.gov/27632770" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16720-1", "protein_name": "Plasma membrane calcium-transporting ATPase 3", "gene_name": "ATP2B3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16720", "url": "https://www.uniprot.org/uniprotkb/Q16720" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27632770", "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 PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.", "journal": "Biochimica et biophysica acta. 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Struct. Mol. Biol.", "date": "2011", "authors": "Pykalainen A, Boczkowska M, Zhao H, Saarikangas J, Rebowski G, Jansen M, Hakanen J, Koskela EV, Peranen J, Vihinen H, Jokitalo E, Salminen M, Ikonen E, Dominguez R, Lappalainen P", "reference": { "type": "PubMed", "id": "21743456", "url": "https://pubmed.ncbi.nlm.nih.gov/21743456" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UXY1-1", "protein_name": "BAR/IMD domain-containing adapter protein 2-like 2", "gene_name": "BAIAP2L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q80Y61-1", "protein_name": "BAR/IMD domain-containing adapter protein 2-like 2", "gene_name": "Baiap2l2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXY1", "url": "https://www.uniprot.org/uniprotkb/Q6UXY1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 109, "end_pos": 109, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs lipid-binding activity and hence PtdIns(4,5)P2 clustering; when associated with A-116.", "evidence": [ { "database": "UniProtKB", "id": "Q80Y61", "url": "https://www.uniprot.org/uniprotkb/Q80Y61" }, { "database": "PubMed", "id": "21743456", "url": "https://pubmed.ncbi.nlm.nih.gov/21743456" } ], "uniprot_canonical_ac": "Q80Y61-1" }, { "start_pos": 116, "end_pos": 116, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs lipid-binding activity and hence PtdIns(4,5)P2 clustering; when associated with A-109.", "evidence": [ { "database": "UniProtKB", "id": "Q80Y61", "url": "https://www.uniprot.org/uniprotkb/Q80Y61" }, { "database": "PubMed", "id": "21743456", "url": "https://pubmed.ncbi.nlm.nih.gov/21743456" } ], "uniprot_canonical_ac": "Q80Y61-1" }, { "start_pos": 124, "end_pos": 124, "sequence_org": "I", "sequence_mut": "S", "comment": "Partially impairs lipid-binding activity and hence PtdIns(4,5)P2 clustering.", "evidence": [ { "database": "UniProtKB", "id": "Q80Y61", "url": "https://www.uniprot.org/uniprotkb/Q80Y61" }, { "database": "PubMed", "id": "21743456", "url": "https://pubmed.ncbi.nlm.nih.gov/21743456" } ], "uniprot_canonical_ac": "Q80Y61-1" }, { "start_pos": 127, "end_pos": 127, "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs lipid-binding activity and hence PtdIns(4,5)P2 clustering; when associated with A-135.", "evidence": [ { "database": "UniProtKB", "id": "Q80Y61", "url": "https://www.uniprot.org/uniprotkb/Q80Y61" }, { "database": "PubMed", "id": "21743456", "url": "https://pubmed.ncbi.nlm.nih.gov/21743456" } ], "uniprot_canonical_ac": "Q80Y61-1" }, { "start_pos": 135, "end_pos": 135, "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs lipid-binding activity and hence PtdIns(4,5)P2 clustering; when associated with A-127.", "evidence": [ { "database": "UniProtKB", "id": "Q80Y61", "url": "https://www.uniprot.org/uniprotkb/Q80Y61" }, { "database": "PubMed", "id": "21743456", "url": "https://pubmed.ncbi.nlm.nih.gov/21743456" } ], "uniprot_canonical_ac": "Q80Y61-1" }, { "start_pos": 141, "end_pos": 141, "sequence_org": "W", "sequence_mut": "S", "comment": "Deficient in oligomerization (dimerization maintained). 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"BAI1associated protein 2like 2 is a potential biomarker in lung cancer.", "journal": "Oncology reports", "date": "2019", "authors": "Xu L, Du H, Zhang Q, Wang C, Yan L, Tian G, Fu X", "reference": { "type": "PubMed", "id": "30483805", "url": "https://pubmed.ncbi.nlm.nih.gov/30483805" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UXY1-1", "protein_name": "BAR/IMD domain-containing adapter protein 2-like 2", "gene_name": "BAIAP2L2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXY1", "url": "https://www.uniprot.org/uniprotkb/Q6UXY1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30483805", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 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"authors": "Tholen Lotte E, Schigt Heidi, Kleuskens Sanne G E, Bos Caro, Spruijt Cornelia G, Willemsen Brigith, Vermeulen Michiel, Hoenderop Joost G J, de Baaij Jeroen H F", "reference": { "type": "PubMed", "id": "36520027", "url": "https://pubmed.ncbi.nlm.nih.gov/36520027" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UXY1-1", "protein_name": "BAR/IMD domain-containing adapter protein 2-like 2", "gene_name": "BAIAP2L2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q80Y61-1", "protein_name": "BAR/IMD domain-containing adapter protein 2-like 2", "gene_name": "Baiap2l2", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UXY1", "url": "https://www.uniprot.org/uniprotkb/Q6UXY1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36520027", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": 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J. Hum. Genet.", "date": "2016", "authors": "Shashi Vandana, Pena Loren D M, Kim Katherine, Burton Barbara, Hempel Maja, Schoch Kelly, Walkiewicz Magdalena, McLaughlin Heather M, Cho Megan, Stong Nicholas, Hickey Scott E, Shuss Christine M, , Freemark Michael S, Bellet Jane S, Keels Martha Ann, Bonner Melanie J, El-Dairi Maysantoine, Butler Megan, Kranz Peter G, Stumpel Constance T R M, Klinkenberg Sylvia, Oberndorff Karin, Alawi Malik, Santer Rene, Petrovski Slav\u00e9, Kuismin Outi, Korpi-Heikkil\u00e4 Satu, Pietilainen Olli, Aarno Palotie, Kurki Mitja I, Hoischen Alexander, Need Anna C, Goldstein David B, Kort\u00fcm Fanny", "reference": { "type": "PubMed", "id": "27693232", "url": "https://pubmed.ncbi.nlm.nih.gov/27693232" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q76L83-1", "protein_name": "Putative Polycomb group protein ASXL2", "gene_name": "ASXL2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q76L83", "url": "https://www.uniprot.org/uniprotkb/Q76L83" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27693232", "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": "Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.", "journal": "American journal of medical genetics. 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Ximeng, Li Xu, Wang Shuang, Liu Qin, Feng Xianming, Wang Wenting, Huang Zhangduo, Huang Yongbo, Wu Jueheng, Cai Muyan, Cai Xiuyu, Xu Xiaonan, Cai Junchao, Li Mengfeng", "reference": { "type": "PubMed", "id": "36626550", "url": "https://pubmed.ncbi.nlm.nih.gov/36626550" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96SQ7-1", "protein_name": "Transcription factor ATOH8", "gene_name": "ATOH8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96SQ7", "url": "https://www.uniprot.org/uniprotkb/Q96SQ7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36626550", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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