Academic Journals and Articles
By Prof. Anu Suomalainen:
Ikonen L, Pirnes-Karhu S, Pradhan S, Jacobs HT, Szibor M, Suomalainen A.
Life Sci Alliance. 2023 Sep 1;6(11):e202302036. doi: 10.26508/lsa.202302036. Print 2023 Nov.
Aaltio J, Etula A, Ojanen S, Brilhante V, Lönnqvist T, Isohanni P, Suomalainen A.
Pediatr Res. 2024 Jan;95(1):102-111. doi: 10.1038/s41390-023-02767-z. Epub 2023 Aug 10.
Vasilescu C, Colpan M, Ojala TH, Manninen T, Mutka A, Ylänen K, Rahkonen O, Poutanen T, Martelius L, Kumari R, Hinterding H, Brilhante V, Ojanen S, Lappalainen P, Koskenvuo J, Carroll CJ, Fowler VM, Gregorio CC, Suomalainen A.
Commun Biol. 2024 Jan 2;7(1):7. doi: 10.1038/s42003-023-05670-9.
Suomalainen A.
Handb Clin Neurol. 2023;194:251-257. doi: 10.1016/B978-0-12-821751-1.00006-3.
Jalil S, Keskinen T, Juutila J, Sartori Maldonado R, Euro L, Suomalainen A, Lapatto R, Kuuluvainen E, Hietakangas V, Otonkoski T, Hyvönen ME, Wartiovaara K.
Am J Hum Genet. 2024 Apr 4;111(4):714-728. doi: 10.1016/j.ajhg.2024.03.004.
Overactive mitochondrial DNA replication disrupts perinatal cardiac maturation.
Landoni JC, Erkul S, Laalo T, Goffart S, Kivelä R, Skube K, Nieminen AI, Wickström SA, Stewart J, Suomalainen A.
Nat Commun. 2024 Sep 14;15(1):8066. doi: 10.1038/s41467-024-52164-1.
PMID: 39277581 Free PMC article.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A.
Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3.
PMID: 38570685 Free PMC article.
Mitochondria at the crossroads of health and disease.
Suomalainen A, Nunnari J.
Cell. 2024 May 23;187(11):2601-2627. doi: 10.1016/j.cell.2024.04.037.
PMID: 38788685 Review.
By Dr. Kristina Liang:
Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
Liang KX, Chen A, Kianian A, Kristiansen CK, Yangzom T, Furriol J, Høyland LE, Ziegler M, Kråkenes T, Tzoulis C, Fang EF, Sullivan GJ, Bindoff LA.
Int J Biol Sci. 2024 May 11;20(8):2860-2880. doi: 10.7150/ijbs.93445. eCollection 2024.
PMID: 38904024 Free PMC article.
Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids.
Chen A, Yangzom T, Hong Y, Lundberg BC, Sullivan GJ, Tzoulis C, Bindoff LA, Liang KX.
Adv Sci (Weinh). 2024 May;11(18):e2307136. doi: 10.1002/advs.202307136. Epub 2024 Mar 6.
PMID: 38445970 Free PMC article.
Meeting Summary of The NYO3 5th NO-Age/AD Meeting and the 1st Norway-UK Joint Meeting on Aging and Dementia: Recent Progress on the Mechanisms and Interventional Strategies.
Wang HL, Siow R, Schmauck-Medina T, Zhang J, Sandset PM, Filshie C, Lund Ø, Partridge L, Bergersen LH, Juel Rasmussen L, Palikaras K, Sotiropoulos I, Storm-Mathisen J, Rubinsztein DC, Spillantini MG, De Zeeuw CI, Watne LO, Vyhnalek M, Veverova K, Liang KX, Tavernarakis N, Bohr VA, Yokote K, Saarela J, Nilsen H, Gonos ES, Scheibye-Knudsen M, Chen G, Kato H, Selbæk G, Fladby T, Nilsson P, Simonsen A, Aarsland D, Lautrup S, Ottersen OP, Cox LS, Fang EF.
J Gerontol A Biol Sci Med Sci. 2024 Apr 1;79(4):glae029. doi: 10.1093/gerona/glae029.
PMID: 38289789 Free PMC article.
The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease.
Hong Y, Zhang Z, Yangzom T, Chen A, Lundberg BC, Fang EF, Siller R, Sullivan GJ, Zeman J, Tzoulis C, Bindoff LA, Liang KX.
Int J Biol Sci. 2024 Jan 25;20(4):1194-1217. doi: 10.7150/ijbs.91624. eCollection 2024.
PMID: 38385069 Free PMC article.
The application of brain organoid for drug discovery in mitochondrial diseases.
Liang KX.
Int J Biochem Cell Biol. 2024 May;170:106556. doi: 10.1016/j.biocel.2024.106556. Epub 2024 Feb 27.
PMID: 38423381 Review.
Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations.
Kristiansen CK, Furriol J, Chen A, Sullivan GJ, Bindoff LA, Liang KX.
FASEB J. 2023 Sep;37(9):e23139. doi: 10.1096/fj.202300650RR.
PMID: 37584631
Inhibition of autophagy reduces the rate of fluoride-induced LS8 apoptosis via regulating ATG5 and ATG7.
Zhao L, Wang H, Liu S, Xi T, Wang L, Li Y, Chen L, Jianping R, Liang KX.
J Biochem Mol Toxicol. 2023 Mar;37(3):e23280. doi: 10.1002/jbt.23280. Epub 2022 Dec 19.
PMID: 36536498
POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia.
Hong Y, Kristiansen CK, Chen A, Nido GS, Høyland LE, Ziegler M, Sullivan GJ, Bindoff LA, Liang KX.
Exp Neurol. 2023 Jul;365:114429. doi: 10.1016/j.expneurol.2023.114429. Epub 2023 Apr 25.
PMID: 37105450
Generation of 3D Midbrain Organoids from Human-Induced Pluripotent Stem Cells.
Yangzom T, Chen A, Liang KX.
J Vis Exp. 2025 Feb 14;(216). doi: 10.3791/67228.
PMID: 40029817
By Prof. Vamsi Mootha:
Single-cell analysis reveals context-dependent, cell-level selection of mtDNA.
Kotrys AV, Durham TJ, Guo XA, Vantaku VR, Parangi S, Mootha VK.
Nature. 2024 May;629(8011):458-466. doi: 10.1038/s41586-024-07332-0. Epub 2024 Apr 24.
PMID: 38658765 Free PMC article.
Cytosolic calcium regulates hepatic mitochondrial oxidation, intrahepatic lipolysis, and gluconeogenesis via CAMKII activation.
LaMoia TE, Hubbard BT, Guerra MT, Nasiri A, Sakuma I, Kahn M, Zhang D, Goodman RP, Nathanson MH, Sancak Y, Perelis M, Mootha VK, Shulman GI.
Cell Metab. 2024 Oct 1;36(10):2329-2340.e4. doi: 10.1016/j.cmet.2024.07.016. Epub 2024 Aug 16.
PMID: 39153480
ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits.
Singh C, Jin B, Shrestha N, Markhard AL, Panda A, Calvo SE, Deik A, Pan X, Zuckerman AL, Ben Saad A, Corey KE, Sjoquist J, Osganian S, AminiTabrizi R, Rhee EP, Shah H, Goldberger O, Mullen AC, Cracan V, Clish CB, Mootha VK, Goodman RP.
Cell Metab. 2024 Jan 2;36(1):144-158.e7. doi: 10.1016/j.cmet.2023.11.010. Epub 2023 Dec 14.
PMID: 38101397 Free PMC article.
METTL17 is an Fe-S cluster checkpoint for mitochondrial translation.
Ast T, Itoh Y, Sadre S, McCoy JG, Namkoong G, Wengrod JC, Chicherin I, Joshi PR, Kamenski P, Suess DLM, Amunts A, Mootha VK.
Mol Cell. 2024 Jan 18;84(2):359-374.e8. doi: 10.1016/j.molcel.2023.12.016. Epub 2024 Jan 9.
PMID: 38199006 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ.
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
PMID: 38057664 Free PMC article.
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism.
Meisel JD, Miranda M, Skinner OS, Wiesenthal PP, Wellner SM, Jourdain AA, Ruvkun G, Mootha VK.
Cell. 2024 Feb 1;187(3):659-675.e18. doi: 10.1016/j.cell.2023.12.010. Epub 2024 Jan 11.
PMID: 38215760 Free PMC article.
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK.
Nature. 2023 Aug;620(7975):839-848. doi: 10.1038/s41586-023-06426-5. Epub 2023 Aug 16.
PMID: 37587338 Free PMC article.
Hypoxia as a medicine.
Rogers RS, Mootha VK.
Sci Transl Med. 2025 Jan 22;17(782):eadr4049. doi: 10.1126/scitranslmed.adr4049. Epub 2025 Jan 22.
PMID: 39841808 Review.
Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing.
Foged MM, Recazens E, Chollet S, Lisci M, Allen GE, Zinshteyn B, Boutguetait D, Münch C, Mootha VK, Jourdain AA.
Proc Natl Acad Sci U S A. 2024 Nov 19;121(47):e2414187121. doi: 10.1073/pnas.2414187121. Epub 2024 Nov 6.
PMID: 39503847 Free PMC article.
Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma.
Gopal RK, Vantaku VR, Panda A, Reimer B, Rath S, To TL, Fisch AS, Cetinbas M, Livneh M, Calcaterra MJ, Gigliotti BJ, Pierce KA, Clish CB, Dias-Santagata D, Sadow PM, Wirth LJ, Daniels GH, Sadreyev RI, Calvo SE, Parangi S, Mootha VK.
Cancer Discov. 2023 Aug 4;13(8):1904-1921. doi: 10.1158/2159-8290.CD-22-0976.
PMID: 37262067 Free PMC article.
Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock.
Rogers RS, Sharma R, Shah HB, Skinner OS, Guo XA, Panda A, Gupta R, Durham TJ, Shaughnessy KB, Mayers JR, Hibbert KA, Baron RM, Thompson BT, Mootha VK.
Metabolomics. 2024 Mar 6;20(2):36. doi: 10.1007/s11306-024-02089-z.
PMID: 38446263 Free PMC article.
PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics.
To TL, McCoy JG, Ostriker NK, Sandler LS, Mannella CA, Mootha VK.
Nat Metab. 2024 Apr;6(4):687-696. doi: 10.1038/s42255-024-00994-0. Epub 2024 Feb 27.
PMID: 38413804 Free PMC article.
Feasibility of Delivering 5-Day Normobaric Hypoxia Breathing in a Hospital Setting.
Berra L, Medeiros KJ, Marrazzo F, Patel S, Imber D, Rezoagli E, Yu B, Sonny A, Bittner EA, Fisher D, Chipman D, Sharma R, Shah H, Gray BE, Harris NS, Ichinose F, Mootha VK.
Respir Care. 2024 Oct 25;69(11):1400-1408. doi: 10.4187/respcare.11928.
PMID: 39079724
Hypoxia extends lifespan and neurological function in a mouse model of aging.
Rogers RS, Wang H, Durham TJ, Stefely JA, Owiti NA, Markhard AL, Sandler L, To TL, Mootha VK.
PLoS Biol. 2023 May 23;21(5):e3002117. doi: 10.1371/journal.pbio.3002117. eCollection 2023 May.
PMID: 37220109 Free PMC article.
T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.
Walker MA, Li S, Livak KJ, Karaa A, Wu CJ, Mootha VK.
J Inherit Metab Dis. 2024 Jul;47(4):757-765. doi: 10.1002/jimd.12726. Epub 2024 Mar 18.
PMID: 38499449
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG.
Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069.
PMID: 37133451 Free PMC article.
Insulin Sensitivity and Insulin Secretion in Adults With Friedreich's Ataxia: The Role of Skeletal Muscle.
Tamaroff J, Nguyen S, Wilson NE, Stefanovski D, Xiao R, Scattergood T, Capiola C, Schur GM, Dunn J, Dedio A, Wade K, Shah H, Sharma R, Mootha VK, Kelly A, Lin KY, Lynch DR, Reddy R, Rickels MR, McCormack SE.
J Clin Endocrinol Metab. 2025 Jan 21;110(2):317-333. doi: 10.1210/clinem/dgae545.
PMID: 39109797 Free PMC article.
Therapeutic hypoxia for mitochondrial disease via enhancement of hemoglobin affinity and inhibition of HIF-2α.
Wang H, Miranda M, Marutani E, Lichtenegger P, Wojtkiewicz GR, Ichinose F, Mootha VK.
J Clin Invest. 2024 Dec 2;134(23):e185569. doi: 10.1172/JCI185569.
PMID: 39621311 Free PMC article. No abstract available.
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia.
Ast T, Wang H, Marutani E, Nagashima F, Malhotra R, Ichinose F, Mootha VK.
Hum Mol Genet. 2023 Aug 7;32(16):2600-2610. doi: 10.1093/hmg/ddad091.
PMID: 37260376 Free PMC article.
By Dr. Yi Ng:
Mitochondrial encephalomyopathy.
Ng YS, McFarland R.
Handb Clin Neurol. 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X.
PMID: 37562887 Review.
Stroke-like episodes in adult mitochondrial disease.
Ng YS, Gorman GS.
Handb Clin Neurol. 2023;194:65-78. doi: 10.1016/B978-0-12-821751-1.00005-1.
PMID: 36813321 Review.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S.
Eur J Neurol. 2024 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4.
PMID: 38576261 Free PMC article.
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Ilg W, Milne S, Schmitz-Hübsch T, Alcock L, Beichert L, Bertini E, Mohamed Ibrahim N, Dawes H, Gomez CM, Hanagasi H, Kinnunen KM, Minnerop M, Németh AH, Newman J, Ng YS, Rentz C, Samanci B, Shah VV, Summa S, Vasco G, McNames J, Horak FB; Ataxia Global Initiative (AGI) working group Digital Motor Biomarkers.
Cerebellum. 2024 Aug;23(4):1566-1592. doi: 10.1007/s12311-023-01625-2. Epub 2023 Nov 13.
PMID: 37955812 Free PMC article. Review.
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
Olkhova EA, Smith LA, Bradshaw C, Gorman GS, Erskine D, Ng YS.
Int J Mol Sci. 2023 Jun 2;24(11):9698. doi: 10.3390/ijms24119698.
PMID: 37298649 Free PMC article. Review.
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Olkhova EA, Bradshaw C, Blain A, Alvim D, Turnbull DM, LeBeau FEN, Ng YS, Gorman GS, Lax NZ.
Commun Biol. 2023 Oct 23;6(1):1078. doi: 10.1038/s42003-023-05238-7.
PMID: 37872380 Free PMC article.
Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction.
Olkhova EA, Smith LA, Dennis BH, Ng YS, LeBeau FEN, Gorman GS.
Biochem Soc Trans. 2024 Apr 24;52(2):553-565. doi: 10.1042/BST20230191.
PMID: 38563502 Free PMC article. Review.
T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.
Franklin IG, Milne P, Childs J, Boggan RM, Barrow I, Lawless C, Gorman GS, Ng YS, Collin M, Russell OM, Pickett SJ.
Life Sci Alliance. 2023 Aug 31;6(11):e202302271. doi: 10.26508/lsa.202302271. Print 2023 Nov.
PMID: 37652671 Free PMC article.
Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.
Joyce E, Ali M, Richard G, Kelly S, Martin F, Conlon PJ, Whelehan A, Ng YS, Lefter S.
Eur J Neurol. 2024 Oct;31(10):e16405. doi: 10.1111/ene.16405. Epub 2024 Jul 8.
PMID: 38973423 Free PMC article.
Leigh syndrome: an adult presentation of a paediatric disease.
Watson-Fargie T, Marshall V, Fullerton NE, Leach V, Pilz D, Hemingbrough CVY, Hopton S, Taylor RW, Ng YS, Schaefer A, Gorman GS, Farrugia ME.
Pract Neurol. 2024 Jan 23;24(1):45-50. doi: 10.1136/pn-2023-003862.
PMID: 37567761
TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study.
Bangel KA, Lim AZ, Blain A, Ng YS, Winder A, Bulmer J, Gorman G, Baker M, McFarland R.
BMC Neurol. 2024 Oct 22;24(1):407. doi: 10.1186/s12883-024-03907-6.
PMID: 39438822 Free PMC article. Clinical Trial.
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S; as the Hong Kong Mitochondrial Diseases Interest Group; Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL.
Neurology. 2025 Feb 25;104(4):e209779. doi: 10.1212/WNL.0000000000209779. Epub 2025 Jan 30.
PMID: 39883904
