Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration.
Garg V et al.
Disease Models & Mechanisms, 2025
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Dutta D et al.
Human Molecular Genetics, 2020
Select a paper to view details