{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T19:07:10Z","timestamp":1781896030776,"version":"3.54.5"},"reference-count":74,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["714.017.004"],"award-info":[{"award-number":["714.017.004"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["269925409"],"award-info":[{"award-number":["269925409"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010071","name":"Netherlands Initiative for Educational Research","doi-asserted-by":"publisher","award":["91217009"],"award-info":[{"award-number":["91217009"]}],"id":[{"id":"10.13039\/501100010071","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2026,2]]},"DOI":"10.1016\/j.bbadis.2025.168070","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T06:37:35Z","timestamp":1760078255000},"page":"168070","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria"],"prefix":"10.1016","volume":"1872","author":[{"given":"Zeinab Alsadat","family":"Ahmadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Cabrera-Orefice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Zaninello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Barth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Veronese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena I.","family":"Rugarli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Brodesser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2025.168070_bb0005","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.trecan.2017.10.006","article-title":"Mitochondria, bioenergetics and apoptosis in cancer","volume":"3","author":"Burke","year":"2017","journal-title":"Trends Cancer"},{"key":"10.1016\/j.bbadis.2025.168070_bb0010","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1007\/s00415-011-6104-z","article-title":"The role of mitochondria in neurodegenerative diseases","volume":"258","author":"Filosto","year":"2011","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0015","series-title":"Mitochondria in Obesity and Type 2 Diabetes","first-page":"421","article-title":"Chapter 18 - mitochondria in obesity and type 2 diabetes: concluding review and research perspectives","author":"Morio","year":"2019"},{"key":"10.1016\/j.bbadis.2025.168070_bb0020","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.yjmcc.2012.09.002","article-title":"Mitochondria in cardiac hypertrophy and heart failure","volume":"55","author":"Rosca","year":"2013","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0025","doi-asserted-by":"crossref","first-page":"3662","DOI":"10.1172\/JCI120842","article-title":"The role of mitochondria in aging","volume":"128","author":"Jang","year":"2018","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbadis.2025.168070_bb0030","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3233\/JPD-201981","article-title":"Mitochondria and Parkinson\u2019s disease: clinical, molecular, and translational aspects","volume":"11","author":"Borsche","year":"2021","journal-title":"J. Parkinsons Dis."},{"key":"10.1016\/j.bbadis.2025.168070_bb0035","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1002\/1873-3468.13995","article-title":"Mitochondrial disorders of the OXPHOS system","volume":"595","author":"Fernandez-Vizarra","year":"2021","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbadis.2025.168070_bb0040","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S1474-4422(21)00098-3","article-title":"Mitochondrial disease in adults: recent advances and future promise","volume":"20","author":"Ng","year":"2021","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0045","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2021108648","article-title":"Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome","volume":"40","author":"Guerrero-Castillo","year":"2021","journal-title":"EMBO J."},{"key":"10.1016\/j.bbadis.2025.168070_bb0050","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/ana.1084","article-title":"Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene","volume":"50","author":"Taylor","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0055","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1146\/annurev.biochem.75.103004.142539","article-title":"Energy converting NADH:quinone oxidoreductase (complex I)","volume":"75","author":"Brandt","year":"2006","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbadis.2025.168070_bb0060","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1126\/science.1259859","article-title":"Mechanistic insight from the crystal structure of mitochondrial complex I","volume":"347","author":"Zickermann","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.bbadis.2025.168070_bb0065","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1016\/j.bbabio.2015.12.013","article-title":"Ischemic a\/D transition of mitochondrial complex I and its role in ROS generation","volume":"1857","author":"Dr\u00f6se","year":"2016","journal-title":"Biochim Biophys Acta Bioenergetics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0070","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.cmet.2016.09.002","article-title":"The assembly pathway of mitochondrial respiratory chain complex I","volume":"25","author":"Guerrero-Castillo","year":"2017","journal-title":"Cell Metab."},{"key":"10.1016\/j.bbadis.2025.168070_bb0075","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1146\/annurev-biochem-070511-103700","article-title":"Mitochondrial complex I","volume":"82","author":"Hirst","year":"2013","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbadis.2025.168070_bb0080","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1038\/s41467-018-06955-y","article-title":"Locking loop movement in the ubiquinone pocket of complex I disengages the proton pumps","volume":"9","author":"Cabrera-Orefice","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbadis.2025.168070_bb0085","doi-asserted-by":"crossref","first-page":"20907","DOI":"10.1074\/jbc.M803190200","article-title":"Identification of the mitochondrial ND3 subunit as a structural component involved in the active\/deactive enzyme transition of respiratory complex I","volume":"283","author":"Galkin","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2025.168070_bb0090","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbabio.2020.148207","article-title":"Deactivation of mitochondrial NADH:ubiquinone oxidoreductase (respiratory complex I): extrinsically affecting factors","volume":"1861","author":"Grivennikova","year":"2020","journal-title":"Biochim. Biophys. Acta Bioenerg."},{"key":"10.1016\/j.bbadis.2025.168070_bb0095","article-title":"A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations","volume":"99","author":"Chang","year":"2020","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.bbadis.2025.168070_bb0100","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ana.10787","article-title":"De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency","volume":"55","author":"McFarland","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0105","first-page":"221","article-title":"The genetics of Leigh syndrome and its implications for clinical practice and risk management","volume":"7","author":"Ruhoy","year":"2014","journal-title":"Appl. Clin. Genet."},{"key":"10.1016\/j.bbadis.2025.168070_bb0110","doi-asserted-by":"crossref","first-page":"10996","DOI":"10.1073\/pnas.1006214107","article-title":"Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome","volume":"107","author":"Quintana","year":"2010","journal-title":"Proc Natl Acad USA"},{"key":"10.1016\/j.bbadis.2025.168070_bb0115","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.bbabio.2016.11.010","article-title":"Accessory subunit NUYM (NDUFS4) is required for stability of the electron input module and activity of mitochondrial complex I","volume":"1858","author":"Kahlh\u00f6fer","year":"2017","journal-title":"Biochim Biophys Acta Bioenergetics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0120","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.nbd.2012.03.007","article-title":"The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases","volume":"51","author":"Breuer","year":"2013","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.bbadis.2025.168070_bb0125","doi-asserted-by":"crossref","first-page":"11733","DOI":"10.1038\/s41598-017-09417-5","article-title":"Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh disease","volume":"7","author":"de Haas","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbadis.2025.168070_bb0130","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ceca.2012.02.005","article-title":"Mitochondrial dynamics and their impact on T cell function","volume":"52","author":"Quintana","year":"2012","journal-title":"Cell Calcium"},{"key":"10.1016\/j.bbadis.2025.168070_bb0135","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbabio.2020.148213","article-title":"NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(\u2212\/\u2212) mice and Leigh syndrome patients: a stabilizing role for NDUFAF2","volume":"1861","author":"Adjobo-Hermans","year":"2020","journal-title":"Biochim Biophys Acta Bioenergetics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0140","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.freeradbiomed.2014.10.511","article-title":"Generator-specific targets of mitochondrial reactive oxygen species","volume":"78","author":"Bleier","year":"2015","journal-title":"Free Rad Biol Med"},{"key":"10.1016\/j.bbadis.2025.168070_bb0145","doi-asserted-by":"crossref","first-page":"30129","DOI":"10.1074\/jbc.M504709200","article-title":"Superoxide radical formation by pure complex I (NADH\u202f: ubiquinone oxidoreductase) from Yarrowia lipolytica","volume":"280","author":"Galkin","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2025.168070_bb0150","doi-asserted-by":"crossref","first-page":"7607","DOI":"10.1073\/pnas.0510977103","article-title":"The mechanism of superoxide production by NADH\u202f: ubiquinone oxidoreductase (complex I) from bovine heart mitochondria","volume":"103","author":"Kussmaul","year":"2006","journal-title":"Proc Natl Acad USA"},{"key":"10.1016\/j.bbadis.2025.168070_bb0155","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/S0005-2728(05)80329-9","article-title":"Effect of Ca2+ ions on the slow active\/inactive transition of the mitochondrial NADH-ubiquinone reductase","volume":"1098","author":"Kotlyar","year":"1992","journal-title":"Biochim Biophys Acta Bioenergetics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0160","doi-asserted-by":"crossref","first-page":"D1541","DOI":"10.1093\/nar\/gkaa1011","article-title":"MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations","volume":"49","author":"Rath","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbadis.2025.168070_bb0165","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0028536","article-title":"Galactose enhances oxidative metabolism and reveals mitochondrial dysfunction in human primary muscle cells","volume":"6","author":"Aguer","year":"2011","journal-title":"PloS One"},{"key":"10.1016\/j.bbadis.2025.168070_bb0170","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1083\/jcb.201401006","article-title":"Uniform nomenclature for the mitochondrial contact site and cristae organizing system","volume":"204","author":"Pfanner","year":"2014","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0175","doi-asserted-by":"crossref","DOI":"10.1016\/j.cellimm.2020.104179","article-title":"CARD19, the protein formerly known as BinCARD, is a mitochondrial protein that does not regulate Bcl10-dependent NF-\u03baB activation after TCR engagement","volume":"356","author":"Rios","year":"2020","journal-title":"Cell. Immunol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0180","doi-asserted-by":"crossref","DOI":"10.3390\/cells11071175","article-title":"CARD19 interacts with mitochondrial contact site and cristae organizing system constituent proteins and regulates cristae morphology","volume":"11","author":"Rios","year":"2022","journal-title":"Cells"},{"key":"10.1016\/j.bbadis.2025.168070_bb0185","doi-asserted-by":"crossref","first-page":"2557","DOI":"10.1016\/j.celrep.2017.05.073","article-title":"OPA1 isoforms in the hierarchical organization of mitochondrial functions","volume":"19","author":"Del Dotto","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.bbadis.2025.168070_bb0190","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.2337\/db18-1229","article-title":"Genetic regulation of enoyl-CoA hydratase domain-containing 3 in adipose tissue determines insulin sensitivity in African Americans and Europeans","volume":"68","author":"Sharma","year":"2019","journal-title":"Diabetes"},{"key":"10.1016\/j.bbadis.2025.168070_bb0195","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2021110476","article-title":"Regulation of mitochondrial proteostasis by the proton gradient","volume":"41","author":"Patron","year":"2022","journal-title":"EMBO J."},{"key":"10.1016\/j.bbadis.2025.168070_bb0200","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/nrm3582","article-title":"Mechanisms and function of substrate recruitment by F-box proteins","volume":"14","author":"Skaar","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0205","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.ajhg.2013.07.017","article-title":"Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance","volume":"93","author":"Bonnen","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2025.168070_bb0210","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.201911659","article-title":"FBXL4 deficiency increases mitochondrial removal by autophagy","volume":"12","author":"Alsina","year":"2020","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.bbadis.2025.168070_bb0215","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.ajhg.2020.06.015","article-title":"Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia","volume":"107","author":"Husain","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2025.168070_bb0220","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/ng.2325","article-title":"Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness","volume":"44","author":"Wortmann","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2025.168070_bb0225","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1002\/humu.23340","article-title":"Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy","volume":"38","author":"Wortmann","year":"2017","journal-title":"Hum Mut"},{"key":"10.1016\/j.bbadis.2025.168070_bb0230","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1007\/s00018-013-1515-x","article-title":"OCIAD2 activates \u03b3-secretase to enhance amyloid \u03b2 production by interacting with nicastrin","volume":"71","author":"Han","year":"2014","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.bbadis.2025.168070_bb0235","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2019.11.030","article-title":"OCIAD1 contributes to neurodegeneration in Alzheimer\u2019s disease by inducing mitochondria dysfunction, neuronal vulnerability and synaptic damages","volume":"51","author":"Li","year":"2020","journal-title":"eBioMedicine"},{"key":"10.1016\/j.bbadis.2025.168070_bb0240","doi-asserted-by":"crossref","first-page":"ar29","DOI":"10.1091\/mbc.E21-03-0143","article-title":"Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is a novel complex III-specific assembly factor in mitochondria","volume":"33","author":"Chojnacka","year":"2022","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.bbadis.2025.168070_bb0245","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.67624","article-title":"Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial complex III assembly in human cells","volume":"10","author":"Le Vasseur","year":"2021","journal-title":"eLife"},{"key":"10.1016\/j.bbadis.2025.168070_bb0250","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s10863-008-9171-9","article-title":"Challenges in elucidating structure and mechanism of proton pumping NADH:ubiquinone oxidoreductase (complex I)","volume":"40","author":"Zickermann","year":"2008","journal-title":"J. Bioenerg. Biomembr."},{"key":"10.1016\/j.bbadis.2025.168070_bb0255","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.cmet.2015.12.009","article-title":"A unifying mechanism for mitochondrial superoxide production during ischemia-reperfusion injury","volume":"23","author":"Chouchani","year":"2016","journal-title":"Cell Metab."},{"key":"10.1016\/j.bbadis.2025.168070_bb0260","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/s12035-012-8245-1","article-title":"Primary skin fibroblasts as a model of Parkinson\u2019s disease","volume":"46","author":"Auburger","year":"2012","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0265","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1373\/clinchem.2005.062414","article-title":"Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology","volume":"52","author":"Janssen","year":"2006","journal-title":"Clin. Chem."},{"key":"10.1016\/j.bbadis.2025.168070_bb0270","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1055\/s-2007-979735","article-title":"Oxidative metabolism in Rett syndrome: 2. biochemical and molecular studies","volume":"26","author":"Haas","year":"1995","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0275","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1042\/bj1140597","article-title":"The kinetic properties of citrate synthase from rat liver mitochondria","volume":"114","author":"Shepherd","year":"1969","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbadis.2025.168070_bb0280","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1038\/nprot.2012.058","article-title":"Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells","volume":"7","author":"Spinazzi","year":"2012","journal-title":"Nat Protocols"},{"key":"10.1016\/j.bbadis.2025.168070_bb0285","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/0005-2728(90)90137-S","article-title":"Slow active\/inactive transition of the mitochondrial NADH- ubiquinone reductase [published erratum appears in Biochim Biophys Acta 1990 Oct 24;1020(1):113]","volume":"1019","author":"Kotlyar","year":"1990","journal-title":"Biochim Biophys Acta Bioenergetics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0290","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0005-2728(03)00087-2","article-title":"Active\/de-active transition of respiratory complex I in bacteria, fungi, and animals","volume":"1606","author":"Maklashina","year":"2003","journal-title":"Biochim Biophys Acta Bioenergetics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0295","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1016\/j.biocel.2009.03.013","article-title":"Capacity of oxidative phosphorylation in human skeletal muscle: new perspectives of mitochondrial physiology","volume":"41","author":"Gnaiger","year":"2009","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0300","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1093\/icb\/icy085","article-title":"The RCR and ATP\/O indices can give contradictory messages about mitochondrial efficiency","volume":"58","author":"Salin","year":"2018","journal-title":"Integrat Comparat Biol"},{"key":"10.1016\/j.bbadis.2025.168070_bb0305","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1093\/nar\/gkz1128","article-title":"mitoXplorer, a visual data mining platform to systematically analyze and visualize mitochondrial expression dynamics and mutations","volume":"48","author":"Yim","year":"2019","journal-title":"Nuc Acids Res"},{"key":"10.1016\/j.bbadis.2025.168070_bb0310","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1038\/s41592-020-01018-x","article-title":"Cellpose: a generalist algorithm for cellular segmentation","volume":"18","author":"Stringer","year":"2021","journal-title":"Nat. Methods"},{"key":"10.1016\/j.bbadis.2025.168070_bb0315","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.bbadis.2025.168070_bb0320","doi-asserted-by":"crossref","unstructured":"Liu L, Su X, Quinn WJ, III, Hui S, Krukenberg K, Frederick DW, Redpath P, Zhan L, Chellappa K, White E et al (2018) Quantitative analysis of NAD synthesis-breakdown fluxes. Cell Metab. 27: 1067\u20131080. e1065.","DOI":"10.1016\/j.cmet.2018.03.018"},{"key":"10.1016\/j.bbadis.2025.168070_bb0325","doi-asserted-by":"crossref","DOI":"10.1016\/j.expneurol.2020.113252","article-title":"cADPR is a gene dosage-sensitive biomarker of SARM1 activity in healthy, compromised, and degenerating axons","volume":"329","author":"Sasaki","year":"2020","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0330","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.cmet.2012.08.009","article-title":"Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex","volume":"16","author":"Heide","year":"2012","journal-title":"Cell Metab."},{"key":"10.1016\/j.bbadis.2025.168070_bb0335","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1038\/nprot.2006.62","article-title":"Blue native PAGE","volume":"1","author":"Wittig","year":"2006","journal-title":"Nat Protocols"},{"key":"10.1016\/j.bbadis.2025.168070_bb0340","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1038\/nn.2135","article-title":"Evolutionary expansion and anatomical specialization of synapse proteome complexity","volume":"11","author":"Emes","year":"2008","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.bbadis.2025.168070_bb0345","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1074\/mcp.T500030-MCP200","article-title":"Parts per million mass accuracy on an orbitrap mass spectrometer via lock mass injection into a C-trap","volume":"4","author":"Olsen","year":"2005","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0350","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/nbt.1511","article-title":"MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification","volume":"26","author":"Cox","year":"2008","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.bbadis.2025.168070_bb0355","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.bbamcr.2015.10.009","article-title":"Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex","volume":"1863","author":"Huynen","year":"2016","journal-title":"Biochim Biophys Acta Mol Cell Res"},{"key":"10.1016\/j.bbadis.2025.168070_bb0360","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/bioinformatics\/bth078","article-title":"Open source clustering software","volume":"20","author":"de Hoon","year":"2004","journal-title":"Bioinformatics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0365","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1074\/mcp.M900526-MCP200","article-title":"Mass estimation of native proteins by blue native electrophoresis: principles and practical hints","volume":"9","author":"Wittig","year":"2010","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.bbadis.2025.168070_bb0370","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbabio.2021.148411","article-title":"CEDAR, an online resource for the reporting and exploration of complexome profiling data","volume":"1862","author":"van Strien","year":"2021","journal-title":"Biochim Biophys Acta Bioenergetics"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443925004181?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443925004181?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T08:24:35Z","timestamp":1779524675000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443925004181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":74,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["S0925443925004181"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2025.168070","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria","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.2025.168070","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"168070"}}