POLG Publications

POLG Foundation support AND Grantees’ Publications from 2023 (!!! NOT all of them mention specifically the POLG Foundation)

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

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: 3864327438570685

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.

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: 3864327438570685

DOI: 10.1038/s41419-024-06622-9

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.

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: 3864327438570685

DOI: 10.1038/s41419-024-06622-9

2024

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. 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

4. 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

5. 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

6. 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

7. 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

2023

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. 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

4. 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

Research Projects >

The Foundation aims to be a leading funder of basic, translational and clinical PolG research. Working with the global scientific community, we are investing in developing critical tools.