{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T06:25:47Z","timestamp":1775888747920,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":365,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Spanish Instituto de Salud Carlos III"},{"name":"FIS","award":["FIS PI13-01272-FEDER"],"award-info":[{"award-number":["FIS PI13-01272-FEDER"]}]},{"name":"FIS","award":["FIS PI12-02149-FEDER"],"award-info":[{"award-number":["FIS PI12-02149-FEDER"]}]},{"name":"FIS","award":["FISPI15\/01428-FEDER"],"award-info":[{"award-number":["FISPI15\/01428-FEDER"]}]},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"crossref","award":["BIO2012-40133"],"award-info":[{"award-number":["BIO2012-40133"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.bbadis.2016.09.002","type":"journal-article","created":{"date-parts":[[2016,9,9]],"date-time":"2016-09-09T23:36:23Z","timestamp":1473464183000},"page":"182-187","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT - ND1 gene associated with LHON syndrome"],"prefix":"10.1016","volume":"1863","author":[{"given":"Lidia","family":"Carre\u00f1o-Gago","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep","family":"Gamez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yolanda","family":"C\u00e1mara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Alvarez de la Campa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Sebastian","family":"Aller-Alvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dulce","family":"Moncho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Salvado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Galan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"de la Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e0s","family":"Pin\u00f3s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Garc\u00eda-Arum\u00ed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2016.09.002_bb0005","series-title":"The Cell: A Molecular Approach","author":"GM. C","year":"2000"},{"key":"10.1016\/j.bbadis.2016.09.002_bb0010","series-title":"Mitochondrial Disorders Overview","author":"Chinnery","year":"1993"},{"issue":"3","key":"10.1016\/j.bbadis.2016.09.002_bb0015","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1080\/07853890510007368","article-title":"Mitochondrial DNA and disease","volume":"37","author":"Dimauro","year":"2005","journal-title":"Ann. Med."},{"issue":"1","key":"10.1016\/j.bbadis.2016.09.002_bb0020","first-page":"77","article-title":"Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation","volume":"57","author":"Harding","year":"1995","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.bbadis.2016.09.002_bb0025","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ajo.2005.03.017","article-title":"Hereditary optic neuropathies: from the mitochondria to the optic nerve","volume":"140","author":"Newman","year":"2005","journal-title":"Am J. Ophthalmol."},{"issue":"4884","key":"10.1016\/j.bbadis.2016.09.002_bb0030","doi-asserted-by":"crossref","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"},{"issue":"6","key":"10.1016\/j.bbadis.2016.09.002_bb0035","first-page":"1147","article-title":"A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy","volume":"48","author":"Huoponen","year":"1991","journal-title":"Am. J. Hum. Genet."},{"issue":"24","key":"10.1016\/j.bbadis.2016.09.002_bb0040","doi-asserted-by":"crossref","first-page":"3495","DOI":"10.1016\/S0042-6989(96)00167-8","article-title":"Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve","volume":"37","author":"Howell","year":"1997","journal-title":"Vis. Res."},{"issue":"3","key":"10.1016\/j.bbadis.2016.09.002_bb0045","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1016\/0006-291X(92)90479-5","article-title":"An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy","volume":"187","author":"Johns","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"6","key":"10.1016\/j.bbadis.2016.09.002_bb0050","first-page":"1218","article-title":"A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology","volume":"51","author":"Mackey","year":"1992","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.bbadis.2016.09.002_bb0055","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/humu.1380060405","article-title":"Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations","volume":"6","author":"Brown","year":"1995","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.bbadis.2016.09.002_bb0060","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."},{"issue":"4","key":"10.1016\/j.bbadis.2016.09.002_bb0065","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/02713689808951221","article-title":"Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy","volume":"17","author":"Mashima","year":"1998","journal-title":"Curr. Eye Res."},{"issue":"9","key":"10.1016\/j.bbadis.2016.09.002_bb0070","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1111\/ceo.12355","article-title":"New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy","volume":"42","author":"Martinez-Romero","year":"2014","journal-title":"Clin. Exp. Ophthalmol."},{"issue":"3","key":"10.1016\/j.bbadis.2016.09.002_bb0075","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s10545-014-9768-6","article-title":"Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency","volume":"38","author":"Scheffler","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbadis.2016.09.002_bb0080","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.mito.2014.08.008","article-title":"Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families","volume":"18","author":"Zhang","year":"2014","journal-title":"Mitochondrion"},{"issue":"8","key":"10.1016\/j.bbadis.2016.09.002_bb0085","doi-asserted-by":"crossref","first-page":"4586","DOI":"10.1167\/iovs.11-9109","article-title":"Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese families","volume":"53","author":"Zhou","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbadis.2016.09.002_bb0090","doi-asserted-by":"crossref","unstructured":"Y. Ji, M. Liang, J. Zhang, L. Zhu, Z. Zhang, R. Fu, X. Liu, M. Zhang, Q. Fu, F. Zhao, et al., Mitochondrial ND1 variants in 1281 Chinese subjects with Leber's hereditary optic neuropathy, Invest. Ophthalmol. Vis. Sci. 57 (6) 2377\u20132389.","DOI":"10.1167\/iovs.16-19243"},{"issue":"3","key":"10.1016\/j.bbadis.2016.09.002_bb0095","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s100480100115","article-title":"Leber hereditary optic neuropathy: clinical and molecular genetic findings","volume":"3","author":"Huoponen","year":"2001","journal-title":"Neurogenetics"},{"issue":"4","key":"10.1016\/j.bbadis.2016.09.002_bb0100","doi-asserted-by":"crossref","first-page":"476","DOI":"10.2353\/jmoldx.2006.060008","article-title":"An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome","volume":"8","author":"Zhou","year":"2006","journal-title":"J. Mol. Diagn."},{"key":"10.1016\/j.bbadis.2016.09.002_bb0105","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/wcms.1170","article-title":"Prediction of pathological mutations in proteins: the challenge of integrating sequence conservation and structure stability principles","volume":"4","author":"Riera","year":"2014","journal-title":"WIREs Comput. Mol. Sci."},{"issue":"Web Server issue","key":"10.1016\/j.bbadis.2016.09.002_bb0110","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The FoldX web server: an online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbadis.2016.09.002_bb0115","doi-asserted-by":"crossref","unstructured":"I. Adzhubei, D.M. Jordan, S.R. Sunyaev, Predicting functional effect of human missense mutations using polyphen-2, Curr. Protoc. Hum. Genet. (vol. Chapter 7, 2013\/01\/15 edn: Unit7 20).","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"10.1016\/j.bbadis.2016.09.002_bb0120","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0076-6879(96)64031-2","article-title":"Platelet-mediated transformation of human mitochondrial DNA-less cells","volume":"264","author":"Chomyn","year":"1996","journal-title":"Methods Enzymol."},{"issue":"4","key":"10.1016\/j.bbadis.2016.09.002_bb0125","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.mito.2009.02.006","article-title":"Quantification of mitochondrial DNA copy number: pre-analytical factors","volume":"9","author":"Andreu","year":"2009","journal-title":"Mitochondrion"},{"issue":"5","key":"10.1016\/j.bbadis.2016.09.002_bb0130","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.mito.2009.05.001","article-title":"Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis","volume":"9","author":"Medja","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.bbadis.2016.09.002_bb0135","doi-asserted-by":"crossref","unstructured":"S.A. Hollingsworth, P.A. Karplus, A fresh look at the Ramachandran plot and the occurrence of standard structures in proteins, Biomol. Concepts 1 (3\u20134) 271\u2013283.","DOI":"10.1515\/bmc.2010.022"},{"issue":"Database issue","key":"10.1016\/j.bbadis.2016.09.002_bb0140","doi-asserted-by":"crossref","first-page":"D823","DOI":"10.1093\/nar\/gkl927","article-title":"An enhanced MITOMAP with a global mtDNA mutational phylogeny","volume":"35","author":"Ruiz-Pesini","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbadis.2016.09.002_bb0145","series-title":"Current Protocols in Bioinformatics\/Editoral Board","first-page":"21","article-title":"mtDNA variation and analysis using mitomap and mitomaster","author":"Lott","year":"2013"},{"issue":"1","key":"10.1016\/j.bbadis.2016.09.002_bb0150","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.bbrc.2009.05.127","article-title":"Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation","volume":"386","author":"Yang","year":"2009","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbadis.2016.09.002_bb0155","unstructured":"X. Jia, S. Li, P. Wang, X. Guo, Q. Zhang, mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population, Biochem. Biophys. Res. Commun. 403 (2) 237\u2013241."},{"issue":"1","key":"10.1016\/j.bbadis.2016.09.002_bb0160","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s004390100538","article-title":"Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families","volume":"109","author":"Brown","year":"2001","journal-title":"Hum. Genet."},{"issue":"9","key":"10.1016\/j.bbadis.2016.09.002_bb0165","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1136\/bjo.86.9.1027","article-title":"Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation","volume":"86","author":"Yen","year":"2002","journal-title":"Br. J. Ophthalmol."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443916302204?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443916302204?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T10:23:43Z","timestamp":1568370223000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443916302204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S0925443916302204"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2016.09.002","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2016.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}