{"doi":"10.1126/science.aaz8899","title":"Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice","abstract":"Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, hereditary copper-deficiency disorder that is characterized by progressive neurological injury culminating in death, typically by 3 years of age. Severe copper deficiency leads to multiple pathologies, including impaired energy generation caused by cytochrome c oxidase dysfunction in the mitochondria. Here we report that the small molecule elesclomol escorted copper to the mitochondria and increased cytochrome c oxidase levels in the brain. Through this mechanism, elesclomol prevented detrimental neurodegenerative changes and improved the survival of the mottled-brindled mouse-a murine model of severe Menkes disease. Thus, elesclomol holds promise for the treatment of Menkes and associated disorders of hereditary copper deficiency.","journal":"Science","year":2020,"id":50493,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":191,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9595,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":248985,"name":"Shivatheja Soma","orcid":"0000-0002-3853-7503","position":1,"is_corresponding":false},{"id":248986,"name":"Sai Yuan","orcid":"0000-0002-4089-5780","position":2,"is_corresponding":false},{"id":248987,"name":"Andres Silva","orcid":"0000-0002-3545-1181","position":3,"is_corresponding":false},{"id":248988,"name":"Mohammad Zulkifli","orcid":"0000-0002-9110-9508","position":4,"is_corresponding":false},{"id":248989,"name":"Thomas Snavely","orcid":"0000-0001-7539-8621","position":5,"is_corresponding":false},{"id":248990,"name":"Hannah Faith Greene","orcid":"0000-0003-0672-7334","position":6,"is_corresponding":false},{"id":248991,"name":"Elyssa Nunez","orcid":"0000-0001-6491-6147","position":7,"is_corresponding":false},{"id":248992,"name":"Brogan Lynch","orcid":"0000-0002-6005-6001","position":8,"is_corresponding":false},{"id":248993,"name":"Courtney De Ville","orcid":"0000-0003-4785-636X","position":9,"is_corresponding":false},{"id":231039,"name":"Vinit Shanbhag","orcid":"0000-0002-6188-7421","position":10,"is_corresponding":false},{"id":248994,"name":"Franklin R. Lopez","orcid":"0000-0002-5384-9791","position":11,"is_corresponding":false},{"id":248995,"name":"Arjun Acharya","orcid":"0000-0002-2506-900X","position":12,"is_corresponding":false},{"id":231043,"name":"Michael J. Petris","orcid":"0000-0003-4162-1674","position":13,"is_corresponding":false},{"id":248996,"name":"Byung‐Eun Kim","orcid":"0000-0002-4837-0487","position":14,"is_corresponding":false},{"id":248997,"name":"Vishal M. Gohil","orcid":"0000-0002-9920-2563","position":15,"is_corresponding":false},{"id":248998,"name":"James C. Sacchettini","orcid":"0000-0001-5767-2367","position":16,"is_corresponding":false},{"id":248984,"name":"Liam M. Guthrie","orcid":"0000-0002-5484-3885","position":0,"is_corresponding":true}],"reference_count":33,"raw_metadata":null,"created_at":"2026-07-18T20:39:29.006085Z","pmid":"32381719","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}