Publications

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.

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.

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.

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.

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.

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

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.

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.

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.

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)

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)

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.

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.

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.

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.