David A. Stroud

ASAP-ID: Proximity labelling with small tags

ASAP-ID reduces steric disruption in proximity labelling by using small tags and antibodies, identifying new lamin interactors and showing mutant-specific aggregation patterns.

Pathogenic PTCD1 variants cause mitochondrial protein aggregation and cardiomyopathy

This study identifies pathogenic PTCD1 variants causing mitochondrial protein aggregation and cardiomyopathy by disrupting mitoribosome biogenesis and proteostasis.

Doxycycline inhibits both apicoplast and mitochondrial translation in apicomplexan parasites

This study shows doxycycline inhibits apicoplast and mitochondrial translation in Plasmodium falciparum and Toxoplasma gondii, reducing protein abundance and mitochondrial complex IV activity.

A remarkable case of conserved domain swapping in the COMMD family of proteins

The paper determines crystal structures of COMMD family HN domains, revealing a conserved domain swapping mechanism regulated by hinge-loop conformational changes and phosphorylation.

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukaemia.

This study identifies heme biosynthesis as a selective dependency in AML, showing that its inhibition triggers cuproptosis via copper accumulation and reveals synthetic lethal pathways for therapeutic strategies.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

Legumain drives processing of cathepsins and nuclear localisation of cathepsin L

This study investigates the relationship between legumain and cathepsins, showing legumain is required for cathepsin processing and nuclear localization of cathepsin L, with implications for cell proliferation and other nuclear functions.

Sprint interval exercise disrupts mitochondrial ultrastructure driving a unique mitochondrial stress response and remodelling in humans

This study compares mitochondrial remodelling in humans after moderate-intensity continuous exercise and sprint-interval exercise, showing divergent adaptations in mitochondrial structure, function, and protein expression.

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

The paper identifies a deep intronic variant in NDUFB10 causing a cryptic exon and isolated Complex I deficiency through RNA sequencing in two affected siblings.