PubMed for id: 452448

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28412374,27573165,23866288,21945727,14757859,36751706,35159298,34483339,32598251,30950220,29226520,29054413,23599390,21874297,20920610,19015156,11371515,9950309,8338207,8077184,35300195,33809669,30899493,28936218,27504452,22728747,21540367,37903659,37898095,37771598,37770252,37649161,37542684,37439353,37438770,37421383,37392542,37365290,37364055,37267944,37248755,37243806,37240454,37239977,37227101,37221696,37207340,37147302,37095481,37084714,37060996,37018879,36949224,36899106,36860166,36821008,36804379,36791826,36774800,36757047,36724946,36693417,36681261,36651908,36509520,36460718,36349561,36313763,36287157,36284160,36278487,36252909,36195160,36190515,36190239,36137118,36065636,35960161,35921199,35916905,35872650,35861300,35850843,35768510,35739187,35718349,35715829,35714932,35703069,35623556,35621276,35617047,35614220,35603692,35551180,35543958,35538890,35507602,35484407,35473337,35470798,35451872,35426127,35394113,35363060,35342985,35338196,35332317,35305621,35304126,35297148,35283109,35277167,35272709,35261124,35235001,35233844,35192969,35131372,35085849,35058572,35057824,35043013,35038358,35038180,35023831,34936866,34893548,34873176,34859581,34841503,34838815,34828274,34758253,34751006,34750310,34747818,34742335,34718574,34704386,34698344,34693568,34659107,34645816,34625797,34572057,34492873,34426662,34403091,34400304,34314685,34298071,34244519,34217336,34199774,34187836,34175310,34174951,34156167,34138754,34130600,34106788,34089464,34085946,34072184,34037836,34019996,34002094,33956154,33905871,33901676,33895633,33893551,33859282,33851515,33837217,33821292,33746038,33675743,33670341,33669743,33669111,33662367,33660144,33618294,33600551,33548224,33542467,33515645,33468700,33443159,33437983,33435522,33416107,33412765,33374660,33357600,33279689,33231275,33185792,33183203,33159691,33115825,33107650,33095398,33093004,33079999,33074148,33034545,33003371,32997656,32986679,32980338,32959876,32916707,32890927,32871395,32867841,32858208,32844279,32829404,32818253,32800583,32779020,32770108,32740724,32725468,32723634,32681823,32634278,32605113,32581362,32562066,32518176,32512010,32502755,32443488,32439808,32422999,32401754,32313986,32294757,32275102,32259488,32239289,32195543,32171846,32162843,32160317,32155913,32125518,32100338,32092383,32090372,32079675,32070771,32066501,32000367,31996704,31981894,31972007,31953260,31944455,31936037,31899205,31896019,31888524,31881362,31868880,31844670,31821167,31817224,31814333,31812944,31754720,31742484,31729573,31690347,31678356,31665838,31654396,31653238,31645654,31639449,31614723,31580785,31561357,31538303,31502802,31495340,31471554,31462707,31455609,31455417,31422094,31397080,31343428,31332208,31318034,31303217,31291732,31290617,31287866,31284357,31276219,31267352,31222390,31218680,31213529,31115493,31096549,31091710,31075887,31064326,31059708,31046831,31041887,31023583,31001675,30974204,30964414,30962064,30958857,30931596,30917721,30911911,30911575,30911037,30902110,30885959,30847611,30822454,30807727,30797798,30791960,30783741,30776730,30773800,30763462,30758993,30741381,30739820,30694389,30674338,30664159,30660387,30634017,30626975,30612517,30595373,30565528,30523068,30470562,30467749,30463019,30452684,30450916,30448717,30419971,30417339,30409026,30367658,30327921,30326946,30315356,30310092,30290626,30287509,30285085,30281949,30249152,30239719,30238978,30228243,30209975,30201738,30198892,30190335,30152308,30122554,30095618,30040709,30030362,30025539,30003088,29984425,29975660,29962483,29906638,29850930,29795311,29779213,29746593,29743378,29738577,29727687,29695263,29693551,29681092,29679893,29675530,29653124,29601191,29581464,29549422,29538088,29531337,29527641,29526751,29506874,29451846,29388466,29343773,29331171,29309586,29308836,29286531,29279091,29243944,29243809,29224958,29181510,29106705,29098582,29090463,29079705,29069650,29047345,29028836,29026202,28974279,28973171,28958065,28930151,28924877,28922472,28916769,28916721,28898443,28870582,28859686,28857146,28823142,28818596,28815638,28812460,28790012,28783246,28766501,28759667,28753212,28720349,28719387,28702376,28686290,28665258,28650878,28630166,28613034,28604674,28544275,28506426,28494813,28484165,28473874,28452964,28449981,28437736,28432072,28429146,28409271,28395030,28387812,28332767,28324028,28322498,28291600,28285504,28282037,28279569,28251916,28241778,28236508,28199134,28187263,28173120,28161373,28139165,28128857,28128056,28123175,28031252,28012441,27986404,27940755,27873462,27839525,27826120,27822693,27816999[uid]

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A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

Jackson CB, Hahn D, Schröter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A. Jackson CB, et al. Eur J Med Genet. 2017 Jun;60(6):345-351. doi: 10.1016/j.ejmg.2017.04.006. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28412374

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.

[Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency].

Li XY, Yang YL. Li XY, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2013 Jul;15(7):596-600. Zhongguo Dang Dai Er Ke Za Zhi. 2013. PMID: 23866288 Free article. Review. Chinese.

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14. Mitochondrion. 2011. PMID: 21945727

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.

De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R. De Meirleir L, et al. J Med Genet. 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047. J Med Genet. 2004. PMID: 14757859 Free PMC article.

Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.

Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Mackay L, et al. Am J Med Genet A. 2023 May;191(5):1366-1372. doi: 10.1002/ajmg.a.63131. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751706

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.

Capiau S, Smet J, De Paepe B, Yildiz Y, Arslan M, Stevens O, Verschoore M, Stepman H, Seneca S, Vanlander A. Capiau S, et al. Cells. 2022 Jan 30;11(3):489. doi: 10.3390/cells11030489. Cells. 2022. PMID: 35159298 Free PMC article.

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT. Lines MA, et al. Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6. Eur J Hum Genet. 2021. PMID: 34483339 Free PMC article.

In Silico Repurposing of J147 for Neonatal Encephalopathy Treatment: Exploring Molecular Mechanisms of Mutant Mitochondrial ATP Synthase.

Emmanuel IA, Olotu FA, Agoni C, Soliman MES. Emmanuel IA, et al. Curr Pharm Biotechnol. 2020;21(14):1551-1566. doi: 10.2174/1389201021666200628152246. Curr Pharm Biotechnol. 2020. PMID: 32598251

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR. Staretz-Chacham O, et al. Am J Med Genet A. 2019 Jul;179(7):1293-1298. doi: 10.1002/ajmg.a.61138. Epub 2019 Apr 4. Am J Med Genet A. 2019. PMID: 30950220 Free PMC article.

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