{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:22:41Z","timestamp":1787030561291,"version":"build-2736575974"},"reference-count":38,"publisher":"Spandidos Publications","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Med Report"],"DOI":"10.3892\/mmr.2019.10844","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T01:39:08Z","timestamp":1574386748000},"source":"Crossref","is-referenced-by-count":6,"title":["Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON\u2011related ND4 11778G>A mutation in a family"],"prefix":"10.3892","author":[{"given":"Yu","family":"Ding","sequence":"first","affiliation":[{"name":"Central Laboratory, School of Medicine, Hangzhou First People's Hospital, Zhejiang University, Hangzhou, Zhejiang 310006, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2011Feng","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, School of Medicine, Hangzhou First People's Hospital, Zhejiang University, Hangzhou, Zhejiang 310006, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei\u2011Ya","family":"Li","sequence":"additional","affiliation":[{"name":"Analytical Testing Center, Zhejiang Chinese Medical University, Hangzhou, Zhejiang 310053, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo\u2011Hou","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, Hunan Chinese Medical University, Changsha, Hunan 410208, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian\u2011Hang","family":"Leng","sequence":"additional","affiliation":[{"name":"Central Laboratory, School of Medicine, Hangzhou First People's Hospital, Zhejiang University, Hangzhou, Zhejiang 310006, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2019,11,22]]},"reference":[{"key":"key20200713234340_b1-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1136\/jmg.39.3.162","article-title":"Leber hereditary optic neuropathy","volume":"39","author":"Yu-Wai-Man","year":"2002","journal-title":"J Med Genet"},{"key":"key20200713234340_b2-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.bbabio.2004.05.009","article-title":"Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: A model of mitochondrial neurodegeneration","volume":"1658","author":"Carelli","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"key20200713234340_b3-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1038\/sj.ejhg.5201828","article-title":"Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland","volume":"15","author":"Puomila","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"key20200713234340_b4-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1086\/346066","article-title":"The epidemiology of Leber hereditary optic neuropathy in the North East of England","volume":"72","author":"Yu-Wai-Man","year":"2003","journal-title":"Am J Hum Genet"},{"key":"key20200713234340_b5-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies","volume":"30","author":"Yu-Wai-Man","year":"2011","journal-title":"Prog Retin Eye Res"},{"key":"key20200713234340_b6-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1007\/s10038-006-0032-2","article-title":"Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy","volume":"51","author":"Jia","year":"2006","journal-title":"J Hum Genet"},{"key":"key20200713234340_b7-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.survophthal.2009.10.002","article-title":"The neuro-ophthalmology of mitochondrial disease","volume":"55","author":"Fraser","year":"2010","journal-title":"Surv Ophthalmol"},{"key":"key20200713234340_b8-mmr-21-01-0201","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey","year":"1996","journal-title":"Am J Hum Genet"},{"key":"key20200713234340_b9-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.mito.2016.10.002","article-title":"Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA","volume":"36","author":"Catarino","year":"2017","journal-title":"Mitochondrion"},{"key":"key20200713234340_b10-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1007\/s10048-010-0236-7","article-title":"Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy","volume":"11","author":"Yu","year":"2010","journal-title":"Neurogenetics"},{"key":"key20200713234340_b11-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"52","DOI":"10.5582\/irdr.2018.01126","article-title":"Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation","volume":"8","author":"Asanad","year":"2019","journal-title":"Intractable Rare Dis Res"},{"key":"key20200713234340_b12-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.1167\/iovs.13-13011","article-title":"Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with leber's hereditary optic neuropathy","volume":"55","author":"Liang","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20200713234340_b13-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"4778","DOI":"10.1167\/iovs.14-16158","article-title":"Prevalence of mitochondrial ND4 mutations in 1281 Han Chinese subjects with leber's hereditary optic neuropathy","volume":"56","author":"Jiang","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20200713234340_b14-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"key20200713234340_b15-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat Genet"},{"key":"key20200713234340_b16-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1002\/humu.20378","article-title":"Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA","volume":"27","author":"Ruiz-Pesini","year":"2006","journal-title":"Hum Mutat"},{"key":"key20200713234340_b17-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.gene.2017.11.049","article-title":"Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome","volume":"642","author":"Ding","year":"2018","journal-title":"Gene"},{"key":"key20200713234340_b18-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1002\/humu.21575","article-title":"A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations","volume":"32","author":"Yarham","year":"2011","journal-title":"Hum Mutat"},{"key":"key20200713234340_b19-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1093\/hmg\/ddl130","article-title":"Updating the East Asian mtDNA phylogeny: A prerequisite for the identification of pathogenic mutations","volume":"15","author":"Kong","year":"2006","journal-title":"Hum Mol Genet"},{"key":"key20200713234340_b20-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/0092-8674(81)90300-7","article-title":"Sequence and gene organization of mouse mitochondrial DNA","volume":"26","author":"Bibb","year":"1981","journal-title":"Cell"},{"key":"key20200713234340_b21-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1007\/BF02602930","article-title":"The complete nucleotide sequence of the rattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates","volume":"28","author":"Gadaleta","year":"1989","journal-title":"J Mol Evol"},{"key":"key20200713234340_b22-mmr-21-01-0201","doi-asserted-by":"crossref","first-page":"9759","DOI":"10.1016\/S0021-9258(17)39303-1","article-title":"The complete nucleotide sequence of the xenopus laevis mitochondrial genome","volume":"260","author":"Roe","year":"1985","journal-title":"J Biol Chem"},{"key":"key20200713234340_b23-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1167\/iovs.05-0665","article-title":"The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation","volume":"47","author":"Qu","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20200713234340_b24-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.gene.2006.02.014","article-title":"The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family","volume":"376","author":"Li","year":"2006","journal-title":"Gene"},{"key":"key20200713234340_b25-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.ymgme.2010.07.014","article-title":"Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation","volume":"101","author":"Zhang","year":"2010","journal-title":"Mol Genet Metab"},{"key":"key20200713234340_b26-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.mito.2006.11.015","article-title":"Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family","volume":"7","author":"Qu","year":"2007","journal-title":"Mitochondrion"},{"key":"key20200713234340_b27-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1016\/j.bbrc.2010.07.135","article-title":"Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families","volume":"399","author":"Zhang","year":"2010","journal-title":"Biochem Biophys Res Commun"},{"key":"key20200713234340_b28-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1016\/j.ophtha.2008.10.022","article-title":"Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation","volume":"116","author":"Qu","year":"2009","journal-title":"Ophthalmology"},{"key":"key20200713234340_b29-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1356","DOI":"10.1007\/s00018-003-2343-1","article-title":"Human mitochondrial tRNAs in health and disease","volume":"60","author":"Florentz","year":"2003","journal-title":"Cell Mol Life Sci"},{"key":"key20200713234340_b30-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1007\/164_2017_2","article-title":"Leber hereditary optic neuropathy: Exemplar of an mtDNA disease","volume":"240","author":"Wallace","year":"2017","journal-title":"Handb Exp Pharmacol"},{"key":"key20200713234340_b31-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"key20200713234340_b32-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1999","DOI":"10.1093\/hmg\/ddy107","article-title":"Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy","volume":"27","author":"Zhang","year":"2018","journal-title":"Hum Mol Genet"},{"key":"key20200713234340_b33-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1\u20322 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G->a mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am J Hum Genet"},{"key":"key20200713234340_b34-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"2217","DOI":"10.1093\/nar\/20.9.2217","article-title":"The T-loop region of animal mitochondrial tRNA(Ser)(AGY) is a main recognition site for homologous seryl-tRNA synthetase","volume":"20","author":"Ueda","year":"1992","journal-title":"Nucleic Acids Res"},{"key":"key20200713234340_b35-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1080\/10641963.2017.1411497","article-title":"Mitochondrial tRNAAla C5601T mutation may modulate the clinical expression of tRNAMet A4435G mutation in a Han Chinese family with hypertension","volume":"40","author":"Zheng","year":"2018","journal-title":"Clin Exp Hypertens"},{"key":"key20200713234340_b36-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1016\/0006-291X(91)91497-Z","article-title":"Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)","volume":"174","author":"Tanaka","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"key":"key20200713234340_b37-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"136","DOI":"10.2174\/1566524019666190308121552","article-title":"The mitochondrial tRNAHis G12192A mutation may modulate the clinical expression of deafness-associated tRNAThr G15927A mutation in a Chinese pedigree","volume":"19","author":"Ding","year":"2019","journal-title":"Curr Mol Med"},{"key":"key20200713234340_b38-mmr-21-01-0201","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.3724\/SP.J.1005.2012.01031","article-title":"The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families","volume":"34","author":"Zhou","year":"2012","journal-title":"Yi Chuan"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"deposited":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T20:49:37Z","timestamp":1612471777000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/mmr.2019.10844"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,22]]},"references-count":38,"URL":"https:\/\/doi.org\/10.3892\/mmr.2019.10844","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,22]]}}}