Douglass M. Turnbull

The paper investigates the cellular response to mitochondrial dysfunction in mtDNA maintenance disorders using imaging mass cytometry, finding complex-specific upregulation and proteostasis activation.

This study uses COX-SBFSEM to examine mitochondrial morphology and function in human muscle biopsies with mtDNA deletions, revealing distinct mitochondrial populations and spatial patterns of oxidative phosphorylation.

This paper reveals a wave-shaped germline selection profile of mtDNA mutations by correcting for regression to the mean bias, showing how mutations are filtered in the germline.

The paper shows that cell division reduces mtDNA mutation load in mitotic tissues of a mouse model, while post-mitotic tissues maintain stable mutation levels.

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

This paper introduces a subcellular biopsy technology to isolate organelles like mitochondria from human tissue, demonstrating its ability to surpass the operational limit of laser capture microdissection.

This paper shows that the m.3243A>G mtDNA mutation levels in blood change in a bi-phasic way with age, requiring an age correction dependent on mutation level, and finds evidence for positive germline selection of this mutation.