Associated Papers
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes.
Peifer-Weiß L et al.
Clinical Genetics, 2023
Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies.
Acin-Perez R et al.
The Embo Journal, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Benincá C et al.
Journal of Medical Genetics, 2021
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
Wang L et al.
Molecular Autism, 2020
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