Low abundance of the matrix arm of complex I in mitochondria predicts longevity in mice

Satomi Miwa, Howsun Jow, Karen Baty, +5

Nature Communications

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Diana Lehmann, Kathrin Schubert, Pushpa Raj Joshi, +8

European Journal of Human Genetics

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

Charlotte Maria Zierz, Karen Baty, Emma L. Blakely, +7

Journal of Clinical Medicine

Bypass of Activation Loop Phosphorylation by Aspartate 836 in Activation of the Endoribonuclease Activity of Ire1

Michael C. Armstrong, Sergej Šesták, Ahmed Ali, +5

Molecular and Cellular Biology

A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Diana Lehmann, Kathrin Schubert, Pushpa Raj Joshi, +5

Neuromuscular Disorders