Associated Papers
Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome.
Zhao J et al.
Orphanet Journal of Rare Diseases, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.
Auburger G et al.
Cells, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Ullah F et al.
Human Genetics, 2021
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ et al.
Human Genetics, 2020
Characterization of post-edited cells modified in the TFAM gene by CRISPR/Cas9 technology in the bovine model.
de Oliveira VC et al.
Plos One, 2020
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