{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T21:27:41Z","timestamp":1792618061661,"version":"4.5.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,9,6]],"date-time":"2014-09-06T00:00:00Z","timestamp":1409961600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1007\/s10048-014-0421-1","type":"journal-article","created":{"date-parts":[[2014,9,5]],"date-time":"2014-09-05T05:37:07Z","timestamp":1409895427000},"page":"1-9","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":108,"title":["Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy"],"prefix":"10.1007","volume":"16","author":[{"given":"Senda","family":"Ajroud-Driss","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faisal","family":"Fecto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaouther","family":"Ajroud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irfan","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Calvo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vamsi K.","family":"Mootha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Xiang","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nailah","family":"Siddique","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert J.","family":"Tahmoush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry D.","family":"Heiman-Patterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teepu","family":"Siddique","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,9,6]]},"reference":[{"key":"421_CR1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1097\/MOP.0b013e328306ebb6","volume":"20","author":"FG Debray","year":"2008","unstructured":"Debray FG, Lambert M, Mitchell GA (2008) Disorders of mitochondrial function. Curr Opin Pediatr 20:471\u2013482","journal-title":"Curr Opin Pediatr"},{"key":"421_CR2","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","volume":"290","author":"S Anderson","year":"1981","unstructured":"Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457\u2013465","journal-title":"Nature"},{"key":"421_CR3","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1002\/1522-2683(20001001)21:16<3427::AID-ELPS3427>3.0.CO;2-L","volume":"21","author":"MF Lopez","year":"2000","unstructured":"Lopez MF, Kristal BS, Chernokalskaya E, Lazarev A, Shestopalov AI, Bogdanova A, Robinson M (2000) High-throughput profiling of the mitochondrial proteome using affinity fractionation and automation. Electrophoresis 21:3427\u20133440","journal-title":"Electrophoresis"},{"key":"421_CR4","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","volume":"348","author":"S DiMauro","year":"2003","unstructured":"DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656\u20132668","journal-title":"N Engl J Med"},{"key":"421_CR5","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1212\/WNL.0b013e3182563c46","volume":"78","author":"M Milone","year":"2012","unstructured":"Milone M, Benarroch EE (2012) Mitochondrial dynamics: general concepts and clinical implications. Neurology 78:1612\u20131619","journal-title":"Neurology"},{"key":"421_CR6","unstructured":"Ajroud-Driss S, Fecto F, Ajroud K, Siddique T (2012) Mutations in the nuclear encoded novel mitochondrial protein CHCHD10 cause an autosomal dominant mitochondrial myopathy. Neurology 78"},{"key":"421_CR7","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","volume":"467","author":"RM Durbin","year":"2010","unstructured":"Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Gibbs RA, Hurles ME, McVean GA (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061\u20131073","journal-title":"Nature"},{"key":"421_CR8","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1002\/(SICI)1097-4598(199710)20:10<1219::AID-MUS2>3.0.CO;2-F","volume":"20","author":"TD Heiman-Patterson","year":"1997","unstructured":"Heiman-Patterson TD, Argov Z, Chavin JM, Kalman B, Alder H, DiMauro S, Bank W, Tahmoush AJ (1997) Biochemical and genetic studies in a family with mitochondrial myopathy. Muscle Nerve 20:1219\u20131224","journal-title":"Muscle Nerve"},{"key":"421_CR9","doi-asserted-by":"crossref","first-page":"13843","DOI":"10.1074\/jbc.M808515200","volume":"284","author":"RK Dagda","year":"2009","unstructured":"Dagda RK, Cherra SJ 3rd, Kulich SM, Tandon A, Park D, Chu CT (2009) Loss of PINK1 function promotes mitophagy through effects on oxidative stress and mitochondrial fission. J Biol Chem 284:13843\u201313855","journal-title":"J Biol Chem"},{"key":"421_CR10","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/nature10353","volume":"477","author":"HX Deng","year":"2011","unstructured":"Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H et al (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS\/dementia. Nature 477:211\u2013215","journal-title":"Nature"},{"key":"421_CR11","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","volume":"134","author":"DJ Pagliarini","year":"2008","unstructured":"Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK et al (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell 134:112\u2013123","journal-title":"Cell"},{"key":"421_CR12","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1111\/j.1432-1033.1996.00779.x","volume":"241","author":"MG Claros","year":"1996","unstructured":"Claros MG, Vincens P (1996) Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur J Biochem 241:779\u2013786","journal-title":"Eur J Biochem"},{"key":"421_CR13","doi-asserted-by":"crossref","first-page":"D225","DOI":"10.1093\/nar\/gkq1189","volume":"39","author":"A Marchler-Bauer","year":"2011","unstructured":"Marchler-Bauer A, Lu S, Anderson JB, Chitsaz F, Derbyshire MK, DeWeese-Scott C, Fong JH, Geer LY, Geer RC, Gonzales NR et al (2011) CDD: a Conserved Domain Database for the functional annotation of proteins. Nucleic Acids Res 39:D225\u2013229","journal-title":"Nucleic Acids Res"},{"key":"421_CR14","doi-asserted-by":"crossref","first-page":"e1000590","DOI":"10.1371\/journal.pgen.1000590","volume":"5","author":"JM Baughman","year":"2009","unstructured":"Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK (2009) A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis. PLoS Genet 5:e1000590","journal-title":"PLoS Genet"},{"key":"421_CR15","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.bbrc.2010.09.109","volume":"402","author":"RS Martherus","year":"2010","unstructured":"Martherus RS, Sluiter W, Timmer ED, VanHerle SJ, Smeets HJ, Ayoubi TA (2010) Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. Biochem Biophys Res Commun 402:203\u2013208","journal-title":"Biochem Biophys Res Commun"},{"key":"421_CR16","doi-asserted-by":"crossref","first-page":"R33","DOI":"10.1186\/gb-2005-6-4-r33","volume":"6","author":"J Schug","year":"2005","unstructured":"Schug J, Schuller WP, Kappen C, Salbaum JM, Bucan M, Stoeckert CJ Jr (2005) Promoter features related to tissue specificity as measured by Shannon entropy. Genome Biol 6:R33","journal-title":"Genome Biol"},{"key":"421_CR17","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s10048-006-0032-6","volume":"7","author":"RB Roth","year":"2006","unstructured":"Roth RB, Hevezi P, Lee J, Willhite D, Lechner SM, Foster AC, Zlotnik A (2006) Gene expression analyses reveal molecular relationships among 20 regions of the human CNS. Neurogenetics 7:67\u201380","journal-title":"Neurogenetics"},{"key":"421_CR18","doi-asserted-by":"crossref","first-page":"2918","DOI":"10.1074\/jbc.M110.171975","volume":"286","author":"M Darshi","year":"2011","unstructured":"Darshi M, Mendiola VL, Mackey MR, Murphy AN, Koller A, Perkins GA, Ellisman MH, Taylor SS (2011) ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function. J Biol Chem 286:2918\u20132932","journal-title":"J Biol Chem"},{"key":"421_CR19","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ymgme.2013.07.007","volume":"110","author":"M Milone","year":"2013","unstructured":"Milone M, Wong LJ (2013) Diagnosis of mitochondrial myopathies. Mol Genet Metab 110:35\u201341","journal-title":"Mol Genet Metab"},{"key":"421_CR20","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1093\/brain\/awu138","volume":"137","author":"S Bannwarth","year":"2014","unstructured":"Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG et al (2014) A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 137:2329\u20132345","journal-title":"Brain"},{"key":"421_CR21","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1083\/jcb.200611060","volume":"176","author":"JM Herrmann","year":"2007","unstructured":"Herrmann JM, Kohl R (2007) Catch me if you can! Oxidative protein trapping in the intermembrane space of mitochondria. J Cell Biol 176:559\u2013563","journal-title":"J Cell Biol"},{"key":"421_CR22","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.jmb.2009.08.041","volume":"393","author":"S Longen","year":"2009","unstructured":"Longen S, Bien M, Bihlmaier K, Kloeppel C, Kauff F, Hammermeister M, Westermann B, Herrmann JM, Riemer J (2009) Systematic analysis of the twin cx(9)c protein family. J Mol Biol 393:356\u2013368","journal-title":"J Mol Biol"},{"key":"421_CR23","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1016\/j.febslet.2009.03.061","volume":"583","author":"L Banci","year":"2009","unstructured":"Banci L, Bertini I, Ciofi-Baffoni S, Tokatlidis K (2009) The coiled coil-helix-coiled coil-helix proteins may be redox proteins. FEBS Lett 583:1699\u20131702","journal-title":"FEBS Lett"},{"key":"421_CR24","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1039\/c0mb00058b","volume":"6","author":"G Cavallaro","year":"2010","unstructured":"Cavallaro G (2010) Genome-wide analysis of eukaryotic twin CX9C proteins. Mol BioSyst 6:2459\u20132470","journal-title":"Mol BioSyst"},{"key":"421_CR25","doi-asserted-by":"crossref","first-page":"7411","DOI":"10.1074\/jbc.M111.277103","volume":"287","author":"J An","year":"2012","unstructured":"An J, Shi J, He Q, Lui K, Liu Y, Huang Y, Sheikh MS (2012) CHCM1\/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. J Biol Chem 287:7411\u20137426","journal-title":"J Biol Chem"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-014-0421-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-014-0421-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-014-0421-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:01:05Z","timestamp":1559116865000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-014-0421-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,6]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["421"],"URL":"https:\/\/doi.org\/10.1007\/s10048-014-0421-1","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,6]]}}}