My Bibliography

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Park J, Stepanova A, Dash J, Southwell N, Zhao D, Konrad C, Tyagi P, Kwan JY, Shneider NA, Mentis GZ, Manfredi G, Kawamata H. A mouse model of CHCHD10 p.R15L familial ALS presents mild, age-related motor neuron degeneration without protein instability or mitochondrial dysfunction. bioRxiv. 2025 Dec 29;. doi: 10.64898/2025.12.29.696888. PubMed PMID: 41509469; PubMed Central PMCID: PMC12776396.

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Woo E, Tasnim F, Kawamata H, Manfredi G, Konrad C. Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects. Cell Death Dis. 2025 Nov 21;17(1):51. doi: 10.1038/s41419-025-08126-6. PubMed PMID: 41271630; PubMed Central PMCID: PMC12811294.

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Liao SC, Kano K, Phanse S, Nguyen M, Margolis E, Fu Y, X Meng J, Moutaoufik MT, Chatterton Z, Saccon T, Broderick K, Aoki H, Simms J, Suteja FX, Sei Y, Huang EJ, McAvoy K, Manfredi G, Halliday G, Babu M, Nakamura K. CHCHD2 mutant mice link mitochondrial deficits to PD pathophysiology. Sci Adv. 2025 Nov 14;11(46):eadu0726. doi: 10.1126/sciadv.adu0726. Epub 2025 Nov 14. PubMed PMID: 41237231; PubMed Central PMCID: PMC12617525.

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Yoval-Sánchez B, Guerrero I, Chen Q, Sosunov S, Ansari F, Siragusa M, Konrad C, Niatsetskaya Z, Stepanova A, Starkov AA, Khruschev S, Magrane J, Nikitina AA, Bereshchenko O, Zhou P, Zhou L, Szibor M, Wittig I, Manfredi G, Gross SS, Ten V, Galkin A. Rescuing Ischemic Brain Injury by Rewiring Mitochondrial Electron Flow. bioRxiv. 2025 Sep 22;. doi: 10.1101/2025.05.19.650489. PubMed PMID: 40475414; PubMed Central PMCID: PMC12139768.

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Lv G, Sayles NM, Huang Y, Mancinelli C, McAvoy K, Shneider NA, Manfredi G, Kawamata H, Eliezer D. Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration. Nat Commun. 2025 Aug 2;16(1):7121. doi: 10.1038/s41467-025-62149-3. PubMed PMID: 40753073; PubMed Central PMCID: PMC12318133.

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Liao SC, Kano K, Phanse S, Nguyen M, Margolis E, Fu Y, Meng J, Moutaoufik MT, Chatterton Z, Aoki H, Simms J, Hsieh I, Suteja F, Sei Y, Huang EJ, McAvoy K, Manfredi G, Halliday G, Babu M, Nakamura K. CHCHD2 mutant mice display mitochondrial protein accumulation and disrupted energy metabolism. bioRxiv. 2024 Aug 31;. doi: 10.1101/2024.08.30.610586. PubMed PMID: 39257750; PubMed Central PMCID: PMC11384018.

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Lv G, Sayles NM, Huang Y, Mancinelli CD, McAvoy K, Shneider NA, Manfredi G, Kawamata H, Eliezer D. Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration. bioRxiv. 2024 Jul 22;. doi: 10.1101/2024.07.18.604174. PubMed PMID: 39091724; PubMed Central PMCID: PMC11291021.

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Guerrero I, Yoval-Sánchez B, Konrad C, Manfredi G, Wittig I, Galkin A. Sex-dependent differences in macaque brain mitochondria. Biochim Biophys Acta Bioenerg. 2024 Nov 1;1865(4):149494. doi: 10.1016/j.bbabio.2024.149494. Epub 2024 Jul 1. PubMed PMID: 38960079; PubMed Central PMCID: PMC11567146.

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Southwell N, Manzo O, Bacman S, Zhao D, Sayles NM, Dash J, Fujita K, D'Aurelio M, Di Lorenzo A, Manfredi G, Kawamata H. High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice. EMBO Mol Med. 2024 Jun;16(6):1352-1378. doi: 10.1038/s44321-024-00067-5. Epub 2024 May 9. PubMed PMID: 38724625; PubMed Central PMCID: PMC11178915.

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Colognesi M, Shkodra A, Gabbia D, Kawamata H, Manfredi PL, Manfredi G, De Martin S. Sex-dependent effects of the uncompetitive N-methyl-D-aspartate receptor antagonist REL-1017 in G93A-SOD1 amyotrophic lateral sclerosis mice. Front Neurol. 2024;15:1384829. doi: 10.3389/fneur.2024.1384829. eCollection 2024. PubMed PMID: 38765264; PubMed Central PMCID: PMC11100767.

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Nelson AT, Cicardi ME, Markandaiah SS, Han JY, Philp NJ, Welebob E, Haeusler AR, Pasinelli P, Manfredi G, Kawamata H, Trotti D. Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes. EMBO Rep. 2024 May;25(5):2479-2510. doi: 10.1038/s44319-024-00140-7. Epub 2024 Apr 29. PubMed PMID: 38684907; PubMed Central PMCID: PMC11094177.

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Southwell N, Manzo O, Zhao D, Sayles NM, Dash J, Fujita K, D'Aurelio M, Di Lorenzo A, Manfredi G, Kawamata H. High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice. bioRxiv. 2023 Dec 28;. doi: 10.1101/2023.02.22.529577. PubMed PMID: 36865125; PubMed Central PMCID: PMC9980108.

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Sayles NM, Napierala JS, Anrather J, Diedhiou N, Li J, Napierala M, Puccio H, Manfredi G. Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency. Dis Model Mech. 2023 Oct 1;16(10). doi: 10.1242/dmm.050114. Epub 2023 Oct 9. PubMed PMID: 37691621; PubMed Central PMCID: PMC10581388.

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Woo E, Bredvik K, Liu B, Fuchs TJ, Manfredi G, Konrad C. Machine learning approaches based on fibroblast morphometry do not predict ALS. Neurobiol Aging. 2023 Oct;130:80-83. doi: 10.1016/j.neurobiolaging.2023.06.010. Epub 2023 Jun 20. PubMed PMID: 37473581.

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Nelson AT, Cicardi ME, Markandaiah SS, Han J, Philp N, Welebob E, Haeusler AR, Pasinelli P, Manfredi G, Kawamata H, Trotti D. Glucose Hypometabolism Prompts RAN Translation and Exacerbates C9orf72-related ALS/FTD Phenotypes. bioRxiv. 2023 Jun 7;. doi: 10.1101/2023.06.07.544100. PubMed PMID: 37333144; PubMed Central PMCID: PMC10274806.

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Southwell N, Primiano G, Nadkarni V, Attarwala N, Beattie E, Miller D, Alam S, Liparulo I, Shurubor YI, Valentino ML, Carelli V, Servidei S, Gross SS, Manfredi G, Chen Q, D'Aurelio M. A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. EMBO Mol Med. 2023 Jul 10;15(7):e16951. doi: 10.15252/emmm.202216951. Epub 2023 May 24. PubMed PMID: 37222423; PubMed Central PMCID: PMC10331581.

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Sasset L, Chowdhury KH, Manzo OL, Rubinelli L, Konrad C, Maschek JA, Manfredi G, Holland WL, Di Lorenzo A. Sphingosine-1-phosphate controls endothelial sphingolipid homeostasis via ORMDL. EMBO Rep. 2023 Jan 9;24(1):e54689. doi: 10.15252/embr.202254689. Epub 2022 Nov 21. PubMed PMID: 36408842; PubMed Central PMCID: PMC9827560.

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Fels JA, Casalena G, Konrad C, Holmes HE, Dellinger RW, Manfredi G. Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301. Hum Mol Genet. 2022 Oct 10;31(20):3458-3477. doi: 10.1093/hmg/ddac118. PubMed PMID: 35652455; PubMed Central PMCID: PMC9558834.

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Fels JA, Dash J, Leslie K, Manfredi G, Kawamata H. Effects of PB-TURSO on the transcriptional and metabolic landscape of sporadic ALS fibroblasts. Ann Clin Transl Neurol. 2022 Oct;9(10):1551-1564. doi: 10.1002/acn3.51648. Epub 2022 Sep 9. PubMed PMID: 36083004; PubMed Central PMCID: PMC9539390.

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Nguyen MK, McAvoy K, Liao SC, Doric Z, Lo I, Li H, Manfredi G, Nakamura K. Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2. Hum Mol Genet. 2022 May 4;31(9):1500-1518. doi: 10.1093/hmg/ddab329. PubMed PMID: 34791217; PubMed Central PMCID: PMC9071413.

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Sayles NM, Southwell N, McAvoy K, Kim K, Pesini A, Anderson CJ, Quinzii C, Cloonan S, Kawamata H, Manfredi G. Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy. Cell Rep. 2022 Mar 8;38(10):110475. doi: 10.1016/j.celrep.2022.110475. PubMed PMID: 35263592; PubMed Central PMCID: PMC9013208.

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Tracy TE, Madero-Pérez J, Swaney DL, Chang TS, Moritz M, Konrad C, Ward ME, Stevenson E, Hüttenhain R, Kauwe G, Mercedes M, Sweetland-Martin L, Chen X, Mok SA, Wong MY, Telpoukhovskaia M, Min SW, Wang C, Sohn PD, Martin J, Zhou Y, Luo W, Trojanowski JQ, Lee VMY, Gong S, Manfredi G, Coppola G, Krogan NJ, Geschwind DH, Gan L. Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration. Cell. 2022 Feb 17;185(4):712-728.e14. doi: 10.1016/j.cell.2021.12.041. Epub 2022 Jan 20. PubMed PMID: 35063084; PubMed Central PMCID: PMC8857049.

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Granatiero V, Sayles NM, Savino AM, Konrad C, Kharas MG, Kawamata H, Manfredi G. Modulation of the IGF1R-MTOR pathway attenuates motor neuron toxicity of human ALS SOD1(G93A) astrocytes. Autophagy. 2021 Dec;17(12):4029-4042. doi: 10.1080/15548627.2021.1899682. Epub 2021 Mar 22. PubMed PMID: 33749521; PubMed Central PMCID: PMC8726657.

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Jenkins EC, Casalena G, Gomez M, Zhao D, Kenny TC, Shah N, Manfredi G, Germain D. Raloxifene is a Female-specific Proteostasis Therapeutic in the Spinal Cord. Endocrinology. 2021 Feb 1;162(2). doi: 10.1210/endocr/bqaa221. PubMed PMID: 33269387; PubMed Central PMCID: PMC7774777.

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Fels JA, Casalena GA, Manfredi G. Sex and oestrogen receptor β have modest effects on gene expression in the mouse brain posterior cortex. Endocrinol Diabetes Metab. 2021 Jan;4(1):e00191. doi: 10.1002/edm2.191. eCollection 2021 Jan. PubMed PMID: 33532622; PubMed Central PMCID: PMC7831211.

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Chen Q, Konrad C, Sandhu D, Roychoudhury D, Schwartz BI, Cheng RR, Bredvik K, Kawamata H, Calder EL, Studer L, Fischer SM, Manfredi G, Gross SS. Accelerated transsulfuration metabolically defines a discrete subclass of amyotrophic lateral sclerosis patients. Neurobiol Dis. 2020 Oct;144:105025. doi: 10.1016/j.nbd.2020.105025. Epub 2020 Aug 1. PubMed PMID: 32745521; PubMed Central PMCID: PMC7491150.

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Qu Y, Konrad C, Anderson C, Qian L, Yin T, Manfredi G, Iadecola C, Zhou P. Prohibitin S-Nitrosylation Is Required for the Neuroprotective Effect of Nitric Oxide in Neuronal Cultures. J Neurosci. 2020 Apr 15;40(16):3142-3151. doi: 10.1523/JNEUROSCI.1804-19.2020. Epub 2020 Mar 9. PubMed PMID: 32152200; PubMed Central PMCID: PMC7159891.

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Jenkins EC, Shah N, Gomez M, Casalena G, Zhao D, Kenny TC, Guariglia SR, Manfredi G, Germain D. Proteasome mapping reveals sexual dimorphism in tissue-specific sensitivity to protein aggregations. EMBO Rep. 2020 Apr 3;21(4):e48978. doi: 10.15252/embr.201948978. Epub 2020 Feb 23. PubMed PMID: 32090465; PubMed Central PMCID: PMC7132179.

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Anderson CJ, Kahl A, Fruitman H, Qian L, Zhou P, Manfredi G, Iadecola C. Prohibitin levels regulate OMA1 activity and turnover in neurons. Cell Death Differ. 2020 Jun;27(6):1896-1906. doi: 10.1038/s41418-019-0469-4. Epub 2019 Dec 9. PubMed PMID: 31819158; PubMed Central PMCID: PMC7244729.

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Granatiero V, Konrad C, Bredvik K, Manfredi G, Kawamata H. Nrf2 signaling links ER oxidative protein folding and calcium homeostasis in health and disease. Life Sci Alliance. 2019 Oct;2(5). doi: 10.26508/lsa.201900563. Print 2019 Oct. PubMed PMID: 31658977; PubMed Central PMCID: PMC6819749.

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Deng Z, Lim J, Wang Q, Purtell K, Wu S, Palomo GM, Tan H, Manfredi G, Zhao Y, Peng J, Hu B, Chen S, Yue Z. ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway. Autophagy. 2020 May;16(5):917-931. doi: 10.1080/15548627.2019.1644076. Epub 2019 Jul 30. PubMed PMID: 31362587; PubMed Central PMCID: PMC7144840.

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Stepanova A, Sosunov S, Niatsetskaya Z, Konrad C, Starkov AA, Manfredi G, Wittig I, Ten V, Galkin A. Redox-Dependent Loss of Flavin by Mitochondrial Complex I in Brain Ischemia/Reperfusion Injury. Antioxid Redox Signal. 2019 Sep 20;31(9):608-622. doi: 10.1089/ars.2018.7693. Epub 2019 Jul 1. PubMed PMID: 31037949; PubMed Central PMCID: PMC6657304.

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Witherspoon M, Sandu D, Lu C, Wang K, Edwards R, Yeung A, Gelincik O, Manfredi G, Gross S, Kopelovich L, Lipkin S. ETHE1 overexpression promotes SIRT1 and PGC1α mediated aerobic glycolysis, oxidative phosphorylation, mitochondrial biogenesis and colorectal cancer. Oncotarget. 2019 Jun 18;10(40):4004-4017. doi: 10.18632/oncotarget.26958. eCollection 2019 Jun 18. PubMed PMID: 31258845; PubMed Central PMCID: PMC6592291.

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Cornacchia D, Zhang C, Zimmer B, Chung SY, Fan Y, Soliman MA, Tchieu J, Chambers SM, Shah H, Paull D, Konrad C, Vincendeau M, Noggle SA, Manfredi G, Finley LWS, Cross JR, Betel D, Studer L. Lipid Deprivation Induces a Stable, Naive-to-Primed Intermediate State of Pluripotency in Human PSCs. Cell Stem Cell. 2019 Jul 3;25(1):120-136.e10. doi: 10.1016/j.stem.2019.05.001. Epub 2019 May 30. PubMed PMID: 31155483; PubMed Central PMCID: PMC7549840.

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Granatiero V, Manfredi G. Mitochondrial Transport and Turnover in the Pathogenesis of Amyotrophic Lateral Sclerosis. Biology (Basel). 2019 May 11;8(2). doi: 10.3390/biology8020036. Review. PubMed PMID: 31083575; PubMed Central PMCID: PMC6627920.

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Anderson CJ, Bredvik K, Burstein SR, Davis C, Meadows SM, Dash J, Case L, Milner TA, Kawamata H, Zuberi A, Piersigilli A, Lutz C, Manfredi G. ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response. Acta Neuropathol. 2019 Jul;138(1):103-121. doi: 10.1007/s00401-019-01989-y. Epub 2019 Mar 14. PubMed PMID: 30877432; PubMed Central PMCID: PMC6571048.

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Fels JA, Manfredi G. Sex Differences in Ischemia/Reperfusion Injury: The Role of Mitochondrial Permeability Transition. Neurochem Res. 2019 Oct;44(10):2336-2345. doi: 10.1007/s11064-019-02769-6. Epub 2019 Mar 12. Review. PubMed PMID: 30863968; PubMed Central PMCID: PMC6742589.

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Stepanova A, Konrad C, Manfredi G, Springett R, Ten V, Galkin A. The dependence of brain mitochondria reactive oxygen species production on oxygen level is linear, except when inhibited by antimycin A. J Neurochem. 2019 Mar;148(6):731-745. doi: 10.1111/jnc.14654. Epub 2019 Jan 24. PubMed PMID: 30582748; PubMed Central PMCID: PMC7086484.

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Palomo GM, Granatiero V, Kawamata H, Konrad C, Kim M, Arreguin AJ, Zhao D, Milner TA, Manfredi G. Parkin is a disease modifier in the mutant SOD1 mouse model of ALS. EMBO Mol Med. 2018 Oct;10(10). doi: 10.15252/emmm.201808888. PubMed PMID: 30126943; PubMed Central PMCID: PMC6180298.

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Song M, Sandoval TA, Chae CS, Chopra S, Tan C, Rutkowski MR, Raundhal M, Chaurio RA, Payne KK, Konrad C, Bettigole SE, Shin HR, Crowley MJP, Cerliani JP, Kossenkov AV, Motorykin I, Zhang S, Manfredi G, Zamarin D, Holcomb K, Rodriguez PC, Rabinovich GA, Conejo-Garcia JR, Glimcher LH, Cubillos-Ruiz JR. IRE1α-XBP1 controls T cell function in ovarian cancer by regulating mitochondrial activity. Nature. 2018 Oct;562(7727):423-428. doi: 10.1038/s41586-018-0597-x. Epub 2018 Oct 10. PubMed PMID: 30305738; PubMed Central PMCID: PMC6237282.

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Anderson CJ, Kahl A, Qian L, Stepanova A, Starkov A, Manfredi G, Iadecola C, Zhou P. Prohibitin is a positive modulator of mitochondrial function in PC12 cells under oxidative stress. J Neurochem. 2018 Aug;146(3):235-250. doi: 10.1111/jnc.14472. PubMed PMID: 29808474; PubMed Central PMCID: PMC6105506.

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Chen Q, Kirk K, Shurubor YI, Zhao D, Arreguin AJ, Shahi I, Valsecchi F, Primiano G, Calder EL, Carelli V, Denton TT, Beal MF, Gross SS, Manfredi G, D'Aurelio M. Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations. Cell Metab. 2018 May 1;27(5):1007-1025.e5. doi: 10.1016/j.cmet.2018.03.002. Epub 2018 Apr 12. PubMed PMID: 29657030; PubMed Central PMCID: PMC5932217.

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Kahl A, Stepanova A, Konrad C, Anderson C, Manfredi G, Zhou P, Iadecola C, Galkin A. Critical Role of Flavin and Glutathione in Complex I-Mediated Bioenergetic Failure in Brain Ischemia/Reperfusion Injury. Stroke. 2018 May;49(5):1223-1231. doi: 10.1161/STROKEAHA.117.019687. Epub 2018 Apr 11. PubMed PMID: 29643256; PubMed Central PMCID: PMC5916474.

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Stepanova A, Konrad C, Guerrero-Castillo S, Manfredi G, Vannucci S, Arnold S, Galkin A. Deactivation of mitochondrial complex I after hypoxia-ischemia in the immature brain. J Cereb Blood Flow Metab. 2019 Sep;39(9):1790-1802. doi: 10.1177/0271678X18770331. Epub 2018 Apr 9. PubMed PMID: 29629602; PubMed Central PMCID: PMC6727140.

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Burstein SR, Kim HJ, Fels JA, Qian L, Zhang S, Zhou P, Starkov AA, Iadecola C, Manfredi G. Estrogen receptor beta modulates permeability transition in brain mitochondria. Biochim Biophys Acta Bioenerg. 2018 Jun;1859(6):423-433. doi: 10.1016/j.bbabio.2018.03.006. Epub 2018 Mar 14. PubMed PMID: 29550215; PubMed Central PMCID: PMC5912174.

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Burstein SR, Valsecchi F, Kawamata H, Bourens M, Zeng R, Zuberi A, Milner TA, Cloonan SM, Lutz C, Barrientos A, Manfredi G. In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. Hum Mol Genet. 2018 Jan 1;27(1):160-177. doi: 10.1093/hmg/ddx397. PubMed PMID: 29112723; PubMed Central PMCID: PMC5886281.

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Kawamata H, Manfredi G. Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases. J Cell Biol. 2017 Dec 4;216(12):3917-3929. doi: 10.1083/jcb.201709172. Epub 2017 Nov 22. Review. PubMed PMID: 29167179; PubMed Central PMCID: PMC5716291.

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Konrad C, Kawamata H, Bredvik KG, Arreguin AJ, Cajamarca SA, Hupf JC, Ravits JM, Miller TM, Maragakis NJ, Hales CM, Glass JD, Gross S, Mitsumoto H, Manfredi G. Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients. Mol Neurodegener. 2017 Oct 24;12(1):76. doi: 10.1186/s13024-017-0217-5. PubMed PMID: 29065921; PubMed Central PMCID: PMC5655870.

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Valsecchi F, Konrad C, D'Aurelio M, Ramos-Espiritu LS, Stepanova A, Burstein SR, Galkin A, Magranè J, Starkov A, Buck J, Levin LR, Manfredi G. Distinct intracellular sAC-cAMP domains regulate ER Ca(2+) signaling and OXPHOS function. J Cell Sci. 2017 Nov 1;130(21):3713-3727. doi: 10.1242/jcs.206318. Epub 2017 Sep 1. PubMed PMID: 28864766; PubMed Central PMCID: PMC5702058.

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Kenny TC, Manfredi G, Germain D. The Mitochondrial Unfolded Protein Response as a Non-Oncogene Addiction to Support Adaptation to Stress during Transformation in Cancer and Beyond. Front Oncol. 2017;7:159. doi: 10.3389/fonc.2017.00159. eCollection 2017. Review. PubMed PMID: 28798902; PubMed Central PMCID: PMC5526845.