Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome.
Zhao J et al.
Orphanet Journal of Rare Diseases, 2024
Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
Mehmedović M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2022
Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions.
Roy A et al.
Biochimica Et Biophysica Acta. Bioenergetics, 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
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
Mitochondrial HMG-Box Containing Proteins: From Biochemical Properties to the Roles in Human Diseases.
Vozáriková V et al.
Biomolecules, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
MtDNA-maintenance defects: syndromes and genes.
Viscomi C et al.
Journal of Inherited Metabolic Disease, 2017
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
Stiles AR et al.
Molecular Genetics and Metabolism, 2016
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