Modelling of Mitochondrial Disease in Specific Cell Lineages to Understand Pathomechanisms and Develop Effective Targeted Therapies

Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome

YC Low, CL McKnight, D Stojanovski, DR Thorburn, AE Frazier

2026-02-01

Sengers syndrome is a rare mitochondrial disorder caused by the loss of a nuclear encoded mitochondrial protein, acylglycerol kina..

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

YC Low, CL McKnight, DA Elliott, DR Thorburn, AE Frazier

2026-01-01

Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic..

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction

R Kugapreethan, SNE Doomun, J Sacharz, AE Frazier, T Sharma, YC Low, S Nie, MG Leeming, L Muellner-Wong, K Last, T Stait, DP De Souza, DR Thorburn, MJ McConville, DA Stroud

2025-08-15

During acute oxidative phosphorylation (OXPHOS) dysfunction, reversal of succinate dehydrogenase (complex II) maintains the redox ..

Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease

MJ Baker, KQ Yek, D Stojanovski

2025-08-01

Intrinsic protein quality control (QC) mechanisms are essential in maintaining mitochondrial health and function. These sophistica..

CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex

MJ Baker, KU Blau, AJ Anderson, CS Palmer, LF Fielden, JJ Crameri, D Milenkovic, DR Thorburn, AE Frazier, T Langer, D Stojanovski

2024-03-04

CLPB is a mitochondrial intermembrane space AAA+ domain–containing disaggregase. CLPB mutations are associated with 3-methylglutac..

Monitoring the in vitro import and assembly of mitochondrial precursor proteins into mammalian mitochondria

JJ Crameri, D Stojanovski

2024-01-01

Mitochondrial protein import is a complex process governing the delivery of the organelle's proteome. This process, in turn, is es..

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease

JJ Crameri, CS Palmer, T Stait, TD Jackson, M Lynch, A Sinclair, LE Frajman, AG Compton, D Coman, DR Thorburn, AE Frazier, D Stojanovski

2024-01-01

TIMM50 is a core subunit of the TIM23 complex, the mitochondrial inner membrane translocase responsible for the import of pre-sequ..