{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T04:13:08Z","timestamp":1788495188880,"version":"build-2803163510"},"reference-count":17,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["D43TW010540"],"award-info":[{"award-number":["D43TW010540"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000061","name":"Fogarty International Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["ICMR\/NCD\/NTF\/25\/2023-24"],"award-info":[{"award-number":["ICMR\/NCD\/NTF\/25\/2023-24"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["ICMR\/2023\/01691"],"award-info":[{"award-number":["ICMR\/2023\/01691"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["JSSAHER\/REG\/RES\/SIG\/NGSMD\/725\/2024-2025"],"award-info":[{"award-number":["JSSAHER\/REG\/RES\/SIG\/NGSMD\/725\/2024-2025"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2026,11]]},"DOI":"10.1016\/j.mito.2026.102183","type":"journal-article","created":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T04:03:28Z","timestamp":1780718608000},"page":"102183","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["TTC19 and FMNL2 gene variants in a pediatric case of mitochondrial disorder with renal tubular acidosis"],"prefix":"10.1016","volume":"91","author":[{"given":"Prince","family":"Jacob","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sekar","family":"Deepha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akhila Vasanth","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shilpa","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Santhoshkumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanika","family":"Vasudeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Kapahtia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meenakshi","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bevinahalli Nanjegowda","family":"Nandeesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhu","family":"Nagappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.mito.2026.102183_bb0005","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1007\/s00467-016-3573-4","article-title":"Clinical and molecular aspects of distal renal tubular acidosis in children","volume":"32","author":"Besouw","year":"2017","journal-title":"Pediatr. Nephrol."},{"issue":"11","key":"10.1016\/j.mito.2026.102183_bb0010","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/j.cub.2012.03.064","article-title":"FMNL2 drives actin-based protrusion and migration downstream of Cdc42","volume":"22","author":"Block","year":"2012","journal-title":"Curr. Biol."},{"issue":"6","key":"10.1016\/j.mito.2026.102183_bb0015","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1002\/jimd.12751","article-title":"Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update","volume":"47","author":"\u010cun\u00e1tov\u00e1","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.mito.2026.102183_bb0020","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0002497","article-title":"Formin 1-isoform IV deficient cells exhibit defects in cell spreading and focal adhesion formation","volume":"3","author":"Dettenhofer","year":"2008","journal-title":"PLoS One"},{"key":"10.1016\/j.mito.2026.102183_bb0025","series-title":"Muscle Biopsy: A Practical Approach","author":"Dubowitz","year":"2013"},{"issue":"4","key":"10.1016\/j.mito.2026.102183_bb0030","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00467-011-1926-6","article-title":"Renal involvement in mitochondrial cytopathies","volume":"27","author":"Emma","year":"2012","journal-title":"Pediatr. Nephrol."},{"issue":"11","key":"10.1016\/j.mito.2026.102183_bb0035","doi-asserted-by":"crossref","first-page":"5686","DOI":"10.3390\/ijms25115686","article-title":"Identification of an FMNL2 Interactome by quantitative mass spectrometry","volume":"25","author":"Fox","year":"2024","journal-title":"Int. J. Mol. Sci."},{"issue":"55","key":"10.1016\/j.mito.2026.102183_bb0040","article-title":"Characterization of diaphanous-related formin FMNL2 in human tissues","volume":"11","author":"Gardberg","year":"2010","journal-title":"BMC Cell Biol."},{"issue":"3","key":"10.1016\/j.mito.2026.102183_bb0045","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng.761","article-title":"Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies","volume":"43","author":"Ghezzi","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2026.102183_bb0050","doi-asserted-by":"crossref","first-page":"14832","DOI":"10.1038\/ncomms14832","article-title":"FMNL formins boost lamellipodial force generation","volume":"8","author":"Kage","year":"2017","journal-title":"Nat. Commun."},{"issue":"10","key":"10.1016\/j.mito.2026.102183_bb0055","first-page":"2554","volume":"10","author":"Labat-de-Hoz","year":"2021","journal-title":"Formins in Human Disease. Cells."},{"issue":"6","key":"10.1016\/j.mito.2026.102183_bb0060","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1086\/302154","article-title":"The first nuclear-encoded complex I mutation in a patient with Leigh syndrome","volume":"63","author":"Loeffen","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.mito.2026.102183_bb0065","article-title":"Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient","volume":"14","author":"Morino","year":"2014","journal-title":"BMC Neurol."},{"issue":"2","key":"10.1016\/j.mito.2026.102183_bb0070","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s10048-013-0361-1","article-title":"Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency","volume":"14","author":"Nogueira","year":"2013","journal-title":"Neurogenetics"},{"key":"10.1016\/j.mito.2026.102183_bb0075","doi-asserted-by":"crossref","first-page":"RP92732","DOI":"10.7554\/eLife.92732","article-title":"FMNL2 regulates actin for endoplasmic reticulum and mitochondria distribution in oocyte meiosis","volume":"12","author":"Pan","year":"2024","journal-title":"Elife"},{"issue":"5","key":"10.1016\/j.mito.2026.102183_bb0080","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.mito.2026.102183_bb0085","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.mito.2016.11.002","article-title":"Mitochondrial oxidative phosphorylation disorders in children: phenotypic, genotypic and biochemical correlations in 85 patients from South India","volume":"32","author":"Sonam","year":"2017","journal-title":"Mitochondrion"}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724926000735?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724926000735?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T03:24:32Z","timestamp":1788492272000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724926000735"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,11]]},"references-count":17,"alternative-id":["S1567724926000735"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2026.102183","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2026,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"TTC19 and FMNL2 gene variants in a pediatric case of mitochondrial disorder with renal tubular acidosis","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2026.102183","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier B.V. and Mitochondria Research Society. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"102183"}}