{"doi":"10.1038/s41525-024-00429-5","title":"Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy","abstract":null,"journal":"npj Genomic Medicine","year":2024,"id":594805,"datarank":0.3453877639491069,"base_score":2.302585092994046,"endowment":2.302585092994046,"self_citation_contribution":0.3453877639491069,"citation_network_contribution":0.0,"self_endowment_contribution":0.3453877639491069,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1522829,"name":"Yukiko Yatsuka","orcid":"0000-0003-3137-6919","position":1,"is_corresponding":false},{"id":1522831,"name":"Yoshinobu Oyazato","orcid":null,"position":2,"is_corresponding":false},{"id":1522832,"name":"Atsushi Nishiyama","orcid":null,"position":3,"is_corresponding":false},{"id":306922,"name":"Kazuhiro R. 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We identified a patient with NAXE-related mitochondrial encephalopathy and novel biallelic GGGCC repeat expansion as long as ~200 repeats in the NAXE promoter region using long-read sequencing. In addition to a marked reduction in the RNA and protein, we found a marked reduction in nascent RNA in the promoter using native elongating transcript-cap analysis of gene expression (NET-CAGE), suggesting transcriptional suppression. Accordingly, CpG hypermethylation was observed in the repeat region. Genetic analyses determined that homozygosity in the patient was due to maternal chromosome 1 uniparental disomy (UPD). We assessed short variants within NAXE including the repeat region in the undiagnosed mitochondrial encephalopathy cohort of 242 patients. This study identified the GGGCC repeat expansion causing a mitochondrial disease and suggests that UPD could significantly contribute to homozygosity for rare repeat-expanded alleles.","is_dataset_classified":null,"base_score":2.1972245773362196,"endowment":2.1972245773362196,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"39455596","pmcid":"PMC11512015","openalex_id":"https://openalex.org/W4403770604","authors":[],"funders":[{"funder_name":"Japan Agency for Medical Research and Development (AMED)","grant_id":"JP23zf0127001","title":null},{"funder_name":"MEXT | Japan Society for the Promotion of Science (JSPS)","grant_id":"JP22K15950","title":null},{"funder_name":"Japan Agency for Medical Research and Development (AMED)","grant_id":"JP23kk0305024","title":null},{"funder_name":"Japan Agency for Medical Research and Development (AMED)","grant_id":"JP23ek0109625","title":null},{"funder_name":"Japan Agency for Medical Research and Development (AMED)","grant_id":"JP22ek0109485","title":null},{"funder_name":"MEXT | Japan Society for the Promotion of Science (JSPS)","grant_id":"JP23H00424","title":null},{"funder_name":"Japan Agency for Medical Research and Development (AMED)","grant_id":"JP23ek0109672","title":null}],"total_grants":7,"fwci":1.3084,"citation_percentile":0.79949792,"influential_citations":0,"citation_trend":[{"year":2025,"count":4},{"year":2026,"count":4}],"oa_status":"gold","license":"cc-by-nc-nd","oa_locations":[{"url":"https://www.nature.com/articles/s41525-024-00429-5.pdf","host_type":"journal"},{"url":"https://www.nature.com/articles/s41525-024-00429-5.pdf","host_type":"publisher"},{"url":"https://www.nature.com/articles/s41525-024-00429-5","host_type":"publisher"},{"url":"https://doi.org/10.1038/s41525-024-00429-5","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/39455596","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11512015","host_type":"repository"},{"url":"https://doaj.org/article/4c622688009f4260844f138e0fda2dc8","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11512015/pdf/41525_2024_Article_429.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11512015","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11512015?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Mitochondrial Function and Pathology","RNA regulation and disease","Neurological diseases and metabolism"],"mesh_terms":[],"keywords":["Medicine","Genetics","Biology","Internal medicine"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Zero hunger"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"hpa"},{"name":"igsr"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T15:38:09.585623Z","pmid":null,"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":[]}