PubMed for id: 477906

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38419071,38304969,37439353,37095481,36791826,36757047,36280881,36278487,36039763,35960161,35921115,35872650,35715829,35714932,35678921,35218364,35216443,35192969,34893548,34704386,34565318,34478236,34426662,34416105,34375736,34314685,34298071,33905871,33882309,33746038,33662367,33600785,33437983,33093004,33003371,32948797,32933822,32858208,32641834,32398681,32162843,32160317,32070771,32000367,31953260,31912925,31821167,31421132,31287866,31269442,31213529,30986824,30962064,30917721,30916033,30911575,30911037,30885959,30776730,30773800,30626970,30582773,30285085,30201738,30095618,30074932,30025539,29581464,29467382,29243944,29228768,29185933,29079705,29026202,28916721,28898443,28857146,28753212,28751209,28646906,28630166,28506426,28432072,28409271,28395030,28322498,28279569,28031252,27986404,27909264,27839525,27826120,27809283,27769300,27716487,27689878,27651038,27623147,27565352,27544295,27440905,27384768,27356879,27181107,27168310,27166948,27154209,27132592,27001427,26979428,26912632,26893822,26829036,26782513,26741492,26685157,26672986,26669660,26608563,26510951,26469001,26437605,26388266,26302049,26189817,26185144,26074369,26028457,26014388,25955204,25906995,25902754,25901006,25900807,25899669,25808178,25778941,25744875,25663696,25620325,25582232,25519239,25455083,25434004,25418474,25375376,25311418,25231369,24934289,24798924,24781756,24670634,24642596,24495761,24470197,24445252,24425735,24397319,24361111,24344204,24239965,24218524,24199594,24158852,24027061,23954870,23910810,23849775,23849264,23847141,23829769,23828044,23746447,23707060,23679913,23616164,23603806,23553477,23504374,23460811,23360351,23313093,23288049,23250747,23179085,23174333,23084291,23063955,23053125,23000343,23000077,22991165,22990144,22947169,22914734,22820119,22767283,22762368,22735617,22644603,22629444,22378285,22342071,22333588,22283595,22268373,22241703,22227277,22115005,22090423,22036961,22036843,22012983,21911497,21862587,21832205,21766414,21730050,21725590,21704194,21664494,21549344,21467570,21463454,21368743,21308897,21295139,21266166,21147908,21107702,20972245,20957220,20864674,20862300,20826705,20818732,20808761,20732359,20722626,20628647,20625092,20566710,20501910,20458543,20388558,20382967,20361014,20196775,20164450,20153825,20147536,20135231,20117076,20088705,20082143,19942370,19933320,19766516,19616603,19579665,19542079,19503089,19470250,19409522,19389488,19352385,19347027,19309719,19295170,19259137,19115482,19103152,19067348,19041632,19015050,18977979,18957597,18828760,18807169,18769256,18651330,18513682,18495510,18439546,18435906,18396137,18353897,18332255,18329219,18319067,18298045,18295330,18245391,18223116,18215069,18174902,18155376,18054510,17943235,17711995,17651460,17636012,17600689,17485607,17413873,17400793,17381984,17342678,17332151,17327449,17189203,17033963,16964828,16950817,16896309,16873964,16604072,16524911,16428432,16402917,16357364,16344465,16339725,16337222,16301523,16287843,16023078,15767514,15657614,15504366,15489198,15466086,15367666,15312163,15269007,15173392,15155867,15086795,15057722,15050409,14764913,14757859,14613972,14519789,12868503,12867996,12813027,12754703,12750314,12624137,12615910,12612282,12566387,12539966,12515039,12475550,12408187,12402249,12231008,12231007,12215968,12075011,12031622,12020273,11997136,11978882,11957153,11898515,11886557,11860175,11782424,11743961,11732774,11723388,11695836,11529680,11509016,11405094,11317352,11279059,11271374,11238744,11231266,11181577,11121445,11079541,11044909,11044474,11033519,11013136,10980727,10963097,10923228,10899453,10870973,10868781,10863941,10749987,10598100,10590409,10545952,10465139,10453733,10416972,10205264,10070614,9860297,9818877,9760212,9755179,9748486,9746366,9735378,9728339,9708539,9698782,9684018,9673990,9647766,9633728,9611002,9571201,9547504,9463323,9451822,9450776,9425147,9395324,9380043,9342407,9309702,9298821,9276437,9247084,9228094,9185337,9125120,8938697,8910895,8909450,8908357,8830176,8809113,8789449,8718457,8628478,8628476,8626458,8410073,8392409,8386619,8319712,8253804,8215979,8186719,8064307,8063753,8007968,7807166,7602331,7580239,7563076,7550341,7500939,7496174,7292258,6317200,6270105,6261083,6092058,3036491,3017950,2987677,2987205,2844766,2844120,2838183,2824920,2551731,2547760,2544586,2540835,2540423,2175026,2169558,2165572,2159985,2143271,2078867,2018041,1965208,1852096,1851820,1850094,1763894,1731824,1699938,1667713,1657411,1648309[uid]

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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Abu Hanna F, Zehavi Y, Cohen-Barak E, Khayat M, Warwar N, Shreter R, Rodenburg RJ, Spiegel R. Abu Hanna F, et al. Orphanet J Rare Dis. 2024 Feb 28;19(1):92. doi: 10.1186/s13023-024-03094-0. Orphanet J Rare Dis. 2024. PMID: 38419071 Free PMC article. Review.

A Drosophila model of mitochondrial disease phenotypic heterogeneity.

Granat L, Knorr DY, Ranson DC, Chakrabarty RP, Chandel NS, Bateman JM. Granat L, et al. Biol Open. 2024 Feb 15;13(2):bio060278. doi: 10.1242/bio.060278. Epub 2024 Feb 28. Biol Open. 2024. PMID: 38304969 Free PMC article.

Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation.

Ueda S, Yagi M, Tomoda E, Matsumoto S, Ueyanagi Y, Do Y, Setoyama D, Matsushima Y, Nagao A, Suzuki T, Ide T, Mori Y, Oyama N, Kang D, Uchiumi T. Ueda S, et al. Nucleic Acids Res. 2023 Aug 11;51(14):7480-7495. doi: 10.1093/nar/gkad591. Nucleic Acids Res. 2023. PMID: 37439353 Free PMC article.

Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.

Chen L, Liu Y. Chen L, et al. BMC Med Genomics. 2023 Apr 24;16(1):86. doi: 10.1186/s12920-023-01513-y. BMC Med Genomics. 2023. PMID: 37095481 Free PMC article. Review.

Methylglyoxal-mediated Gpd1 activation restores the mitochondrial defects in a yeast model of mitochondrial DNA depletion syndrome.

Mukherjee S, Das S, Bedi M, Vadupu L, Ball WB, Ghosh A. Mukherjee S, et al. Biochim Biophys Acta Gen Subj. 2023 May;1867(5):130328. doi: 10.1016/j.bbagen.2023.130328. Epub 2023 Feb 13. Biochim Biophys Acta Gen Subj. 2023. PMID: 36791826

LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.

Alfattal R, Alfarhan M, Algaith AM, Albash B, Elshafie RM, Alshammari A, Alahmad A, Dashti F, Alsafi R, Alsharhan H. Alfattal R, et al. Am J Med Genet A. 2023 May;191(5):1401-1411. doi: 10.1002/ajmg.a.63143. Epub 2023 Feb 9. Am J Med Genet A. 2023. PMID: 36757047

Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.

Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V. Cheng C, et al. Orphanet J Rare Dis. 2022 Oct 24;17(1):386. doi: 10.1186/s13023-022-02446-y. Orphanet J Rare Dis. 2022. PMID: 36280881 Free PMC article.

Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency.

Broxton CN, Kaur P, Lavorato M, Ganesh S, Xiao R, Mathew ND, Nakamaru-Ogiso E, Anderson VE, Falk MJ. Broxton CN, et al. JCI Insight. 2022 Oct 24;7(20):e156222. doi: 10.1172/jci.insight.156222. JCI Insight. 2022. PMID: 36278487 Free PMC article.

A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism.

Meng F, Jia Z, Zheng J, Ji Y, Wang J, Xiao Y, Fu Y, Wang M, Ling F, Guan MX. Meng F, et al. Nucleic Acids Res. 2022 Sep 9;50(16):9453-9469. doi: 10.1093/nar/gkac720. Nucleic Acids Res. 2022. PMID: 36039763 Free PMC article.

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

Guo W, Shao Y, Lang Y, Wang H, Lin Y, Liu X, Zhang R, Shao L. Guo W, et al. Nephrology (Carlton). 2022 Oct;27(10):810-814. doi: 10.1111/nep.14086. Epub 2022 Aug 22. Nephrology (Carlton). 2022. PMID: 35960161

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