Angela Pyle

The paper identifies a COA5 missense variant causing isolated mitochondrial complex IV assembly impairment in two siblings and validates its role in early CIV assembly using patient-derived cells and CRISPR/Cas9 knockout models.

This study examines alpha-synuclein pathology in metachromatic leukodystrophy (MLD) brain tissue, finding seed-competent alpha-synuclein conformers in juvenile-onset cases, similar to Lewy body diseases.

This study uses nanobiopsy and next-generation sequencing to assess subcellular mtDNA mutation loads in human tissue from mitochondrial disease patients.

This study identifies inflammation and autophagy dysfunction, linked to mTOR pathway activation, as key mechanisms in metachromatic leukodystrophy using postmortem tissue analysis.

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.

The paper investigates mitonuclear SNP combinations in Parkinson's disease cohorts and identifies five significant interactions associated with disease risk.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

This paper conducts a genome-wide association study of mitochondrial DNA copy number in two cohorts, identifying potential loci and highlighting the need for larger studies.