Kaz M. Knight

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Marisa W. Friederich, Sharita Timal, Christopher A. Powell et al. · Nature Communications · 2018 · 53 citations · Full text

New insights into the phenotype of FARS2 deficiency

Elise Vantroys, Austin Larson, Marisa W. Friederich et al. · Molecular Genetics and Metabolism · 2017 · 45 citations · Full text

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement

Marisa W. Friederich, Francisco A. Perez, Kaz M. Knight et al. · Molecular Genetics and Metabolism · 2019 · 24 citations · Full text

Neurobiology Of Disease, Genetic Disorder, Pathogenesis +11

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

Marisa W. Friederich, Gabrielle C. Geddes, Saskia B. Wortmann et al. · Molecular Genetics and Metabolism · 2021 · 18 citations · Full text

Cardiomyopathy, Mitochondrial Translation Defect, Mitochondrial Biogenesis +10

Activity-dependent mitochondrial ROS signaling regulates recruitment of glutamate receptors to synapses

Rachel L. Doser, Kaz M. Knight, Ennis W. Deihl et al. · eLife · 2024 · 16 citations · Full text