PolG Publications

PolG Publications from our grantees & others

2025

1. The impact of induced burst suppression on outcomes in patients with POLG-related status epilepticus.

Varhaug KN, Aanestad E, Holmaas G, Wollertsen YM, Berland S, Veiby G, Eichele T, Bjørk MH, Rahman S, Hikmat O.
Seizure. 2025 May 23.
PMID: 40461324

DOI: 10.1016/j.seizure.2025.05.004

2. Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

Smith LA, Olkhova EA, Lax NZ, Ng YS, Taylor RW, Gorman GS, Erskine D, McFarland R.
Acta Neuropathol. 2025 May 30.
PMID: 40445405

DOI: 10.1007/s00401-025-02891-6

3. Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

Corrà S, Zuppardo A, Valenzuela S, Jenninger L, Cerutti R, Sillamaa S, Hoberg E, Johansson KAS, Rovsnik U, Volta S, Silva-Pinheiro P, Davis H, Trifunovic A, Minczuk M, Gustafsson CM, Suomalainen A, Zeviani M, Macao B, Zhu X, Falkenberg M, Viscomi C.
Nat Commun. 2025 May 23.
PMID: 40404629

DOI: 10.1038/s41467-025-60059-y

4. Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease.

VanPortfliet JJ, Lei Y, Ramanathan M, Martinez CG, Wong J, Stodola TJ, Hoffmann BR, Pflug K, Sitcheran R, Kneeland SC, Murray SA, McGuire PJ, Cannon CL, West AP.
Nat Commun. 2025 May 20.
PMID: 40393978

DOI: 10.1038/s41467-025-59907-8

5. A 38-year-old man with unsteadiness and difficulty walking.

Moe A, Fry C, Baker MR, Ng YS.
Pract Neurol. 2025 May 23.
PMID: 40409782

DOI: 10.1136/pn-2024-004352

6. Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease. (Preprint)

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.
PMID: 38570685

DOI: 10.1101/2024.05.11.593693

7. Optical metabolic imaging identifies metabolic shifts and mitochondria heterogeneity in POLG mutator macrophages. (Preprint)

Hu L, West AP, Walsh AJ.
bioRxiv. 2025 Jan 15.
PMID: 39868340

DOI: 10.1101/2025.01.13.632822

2024

1. Status epilepticus in POLG disease: a large multinational study.

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA.
J Neurol. 2024 Aug.
PMID: 38822839

DOI: 10.1007/s00415-024-12463-5

2. Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O.
Ann Clin Transl Neurol. 2024 Jul.
PMID: 38845467

DOI: 10.1002/acn3.52088

3. 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.
PMID: 38576261

DOI: 10.1111/ene.16275

4. Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.

Brañas Casas R, Zuppardo A, Risato G, Dinarello A, Celeghin R, Fontana C, Grelloni E, Gilea AI, Viscomi C, Rasola A, Dalla Valle L, Lodi T, Baruffini E, Facchinello N, Argenton F, Tiso N.
Cell Death Dis. 2024 Apr 20.
PMID: 38643274

DOI: 10.1038/s41419-024-06622-9

5. 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.
PMID: 38570685

DOI: 10.1038/s41586-024-07260-z

6. 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.
PMID: 38904024

DOI: 10.7150/ijbs.93445

7. 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.
PMID: 38445970

DOI: 10.1002/advs.202307136

8. 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.
PMID: 38385069

DOI: 10.7150/ijbs.91624

2023

1. 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.
PMID: 37584631

DOI: 10.1096/fj.202300650RR

2. 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.
PMID: 37872380

DOI: 10.1038/s42003-023-05238-7

 

3. 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.
PMID: 37105450

DOI: 10.1016/j.expneurol.2023.114429

4. Stroke-like episodes in adult mitochondrial disease.

Ng YS, Gorman GS.
Handb Clin Neurol. 2023.
PMID: 36813321

DOI: 10.1016/B978-0-12-821751-1.00005-1