Publications

Anderson CJ, Bredvik K, Burstein SR, Davis C, Meadows SM, Dash J, Case L, Milner TA, Kawamata H, Zuberi A et al..  2019.  ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response.. Acta Neuropathol.

Deng Z, Lim J, Wang Q, Purtell K, Wu S, Palomo GM, Tan H, Manfredi G, Zhao Y, Peng J et al..  2019.  ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway.. Autophagy. :1-15.

Doczi J, Torocsik B, Echaniz-Laguna A, de Camaret BMousson, Starkov A, Starkova N, Gál A, Molnár MJ, Kawamata H, Manfredi G et al..  2016.  Alterations in voltage-sensing of the mitochondrial permeability transition pore in ANT1-deficient cells.. Sci Rep. 6:26700.

P Ozdinler H, Gautam M, Gozutok O, Konrad C, Manfredi G, Gomez EArea, Mitsumoto H, Erb ML, Tian Z, Haase G.  2020.  Better understanding the neurobiology of primary lateral sclerosis.. Amyotroph Lateral Scler Frontotemporal Degener. 21(sup1):35-46.

Sayles NM, Napierala JS, Anrather J, Diedhiou N, Li J, Napierala M, Puccio H, Manfredi G.  2023.  Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.. Dis Model Mech. 16(10)

Sayles NM, Napierala JS, Anrather J, Diedhiou N, Li J, Napierala M, Puccio H, Manfredi G.  2024.  Correction: Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.. Dis Model Mech. 17(1)

Stepanova A, Konrad C, Manfredi G, Springett R, Ten V, Galkin A.  2018.  The dependence of brain mitochondria reactive oxygen species production on oxygen level is linear, except when inhibited by antimycin A.. J Neurochem.

Stepanova A, Shurubor Y, Valsecchi F, Manfredi G, Galkin A.  2016.  Differential susceptibility of mitochondrial complex II to inhibition by oxaloacetate in brain and heart.. Biochim Biophys Acta. 1857(9):1561-8.

Hayes LR, Asress SA, Li Y, Galkin A, Stepanova A, Kawamata H, Manfredi G, Glass JD.  2019.  Distal denervation in the SOD1 knockout mouse correlates with loss of mitochondria at the motor nerve terminal.. Exp Neurol. 318:251-257.

Jenkins ECharles, O'Connell MJ, Manfredi G, Germain D.  2021.  Doxycycline promotes proteasome fitness in the central nervous system.. Sci Rep. 11(1):17003.

Fels JA, Dash J, Leslie K, Manfredi G, Kawamata H.  2022.  Effects of PB-TURSO on the transcriptional and metabolic landscape of sporadic ALS fibroblasts.. Ann Clin Transl Neurol.

Burstein SR, Kim HJeong, Fels JA, Qian L, Zhang S, Zhou P, Starkov AA, Iadecola C, Manfredi G.  2018.  Estrogen receptor beta modulates permeability transition in brain mitochondria.. Biochim Biophys Acta.

Konrad C, Kawamata H, Bredvik KG, Arreguin AJ, Cajamarca SA, Hupf JC, Ravits JM, Miller TM, Maragakis NJ, Hales CM et al..  2017.  Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients.. Mol Neurodegener. 12(1):76.

Fels JA, Casalena G, Konrad C, Holmes HE, Dellinger RW, Manfredi G.  2022.  Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301.. Hum Mol Genet.

Nelson AT, Cicardi MElena, Markandaiah SS, Han JYs, Philp NJ, Welebob E, Haeusler AR, Pasinelli P, Manfredi G, Kawamata H et al..  2024.  Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes.. EMBO Rep. 25(5):2479-2510.

Southwell N, Manzo O, Bacman S, Zhao D, Sayles NM, Dash J, Fujita K, D'Aurelio M, Di Lorenzo A, Manfredi G et al..  2024.  High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice.. EMBO Mol Med.

Southwell N, Zhao D, Sayles NM, Dash J, Fujita K, Aurelio MDâ, Manfredi G, Kawamata H.  2023.  High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice.. bioRxiv.

Yang S, Le Kernec J, Romain O, Fioranelli F, Cadart P, Fix J, Ren C, Manfredi G, Letertre T, Saenz IDavid Hino et al..  2023.  The Human Activity Radar Challenge: benchmarking based on the 'Radar signatures of human activities' dataset from Glasgow University.. IEEE J Biomed Health Inform. PP

Cornacchia D, Zhang C, Zimmer B, Chung SYoung, Fan Y, Soliman MA, Tchieu J, Chambers SM, Shah H, Paull D et al..  2019.  Lipid Deprivation Induces a Stable, Naive-to-Primed Intermediate State of Pluripotency in Human PSCs.. Cell Stem Cell.

Woo E, Bredvik K, Liu B, Fuchs TJ, Manfredi G, Konrad C.  2023.  Machine learning approaches based on fibroblast morphometry do not predict ALS.. Neurobiol Aging. 130:80-83.

Manfredi G, Kawamata H.  2016.  Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis.. Neurobiol Dis. 90:35-42.

Granatiero V, Manfredi G.  2019.  Mitochondrial Transport and Turnover in the Pathogenesis of Amyotrophic Lateral Sclerosis.. Biology (Basel). 8(2)

Kenny TC, Manfredi G, Germain D.  2017.  The Mitochondrial Unfolded Protein Response as a Non-Oncogene Addiction to Support Adaptation to Stress during Transformation in Cancer and Beyond.. Front Oncol. 7:159.

Sayles NM, Southwell N, McAvoy K, Kim K, Pesini A, Anderson CJ, Quinzii C, Cloonan S, Kawamata H, Manfredi G.  2022.  Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy.. Cell Rep. 38(10):110475.

Kawamata H, Peixoto P, Konrad C, Palomo G, Bredvik K, Gerges M, Valsecchi F, Petrucelli L, Ravits JM, Starkov A et al..  2017.  Mutant TDP-43 does not impair mitochondrial bioenergetics in vitro and in vivo.. Mol Neurodegener. 12(1):37.