Article
Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2022
Mehmedović Majda, Martucci Martial, Spåhr Henrik, Ishak Layal, Mishra Anup, Sanchez-Sandoval Maria Eugenia, Pardo-Hernández Carlos, Peter Bradley, van den Wildenberg Siet M, Falkenberg Maria, Farge Geraldine
Abstract excerpt
Mitochondrial transcription factor A (TFAM) is essential for the maintenance, expression, and packaging of mitochondrial DNA (mtDNA). Recently, a pathogenic homozygous variant in TFAM (P178L) has been associated with a severe mtDNA depletion syndrome leading to neonatal liver failure and early death. We have performed a biochemical characterization of the TFAM variant P178L in order to understand the molecular...
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