Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
暂无分享,去创建一个
M. Falkenberg | M. E. Sánchez-Sandoval | G. Farge | Anup Mishra | H. Spåhr | Layal Ishak | Bradley Peter | S. van den Wildenberg | Carlos Pardo-Hernández | M. Mehmedović | Martial Martucci | M. Sánchez-Sandoval
[1] I. Atanassov,et al. High levels of TFAM repress mammalian mitochondrial DNA transcription in vivo , 2021, Life Science Alliance.
[2] Oriol Vinyals,et al. Highly accurate protein structure prediction with AlphaFold , 2021, Nature.
[3] Robert W. Taylor,et al. POLRMT mutations impair mitochondrial transcription causing neurological disease , 2021, Nature Communications.
[4] C. Gustafsson,et al. Mammalian mitochondrial DNA replication and mechanisms of deletion formation , 2020, Critical reviews in biochemistry and molecular biology.
[5] A. Sinclair,et al. 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) , 2020, Human Genetics.
[6] S. Dimauro. A Brief History of Mitochondrial Pathologies , 2019, International journal of molecular sciences.
[7] A. Pajak,et al. Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse , 2019, Science Advances.
[8] Douglas E. V. Pires,et al. DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability , 2018, Nucleic Acids Res..
[9] M. Hashemi Shabestari,et al. Acetylation and phosphorylation of human TFAM regulate TFAM–DNA interactions via contrasting mechanisms , 2018, Nucleic acids research.
[10] P. Cramer,et al. Structural Basis of Mitochondrial Transcription Initiation , 2017, Cell.
[11] W. Craigen,et al. Mitochondrial DNA maintenance defects. , 2017, Biochimica et biophysica acta. Molecular basis of disease.
[12] J. Martinez-Agosto,et al. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. , 2016, Molecular genetics and metabolism.
[13] E. Peterman,et al. Tuning the Music: Acoustic Force Spectroscopy (AFS) 2.0. , 2016, Methods.
[14] T. Samuelsson,et al. Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element , 2015, Nucleic acids research.
[15] V. Manoranjan,et al. Allostery through protein-induced DNA bubbles , 2015, Scientific Reports.
[16] Monika Ritsch-Marte,et al. Acoustic force spectroscopy , 2014, Nature Methods.
[17] M. Minczuk,et al. In D-loop: 40years of mitochondrial 7S DNA , 2014, Experimental Gerontology.
[18] W. Roos,et al. In vitro-reconstituted nucleoids can block mitochondrial DNA replication and transcription. , 2014, Cell reports.
[19] D. Temiakov,et al. Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease. , 2013, Molecular cell.
[20] J. Kolesar,et al. Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number. , 2012, Biochimica et biophysica acta.
[21] J. Nunnari,et al. Mitochondria: In Sickness and in Health , 2012, Cell.
[22] E. Peterman,et al. Protein sliding and DNA denaturation are essential for DNA organization by human mitochondrial transcription factor A , 2012, Nature Communications.
[23] Pau Bernadó,et al. Human mitochondrial transcription factor A induces a U-turn structure in the light strand promoter , 2011, Nature Structural &Molecular Biology.
[24] D. Chan,et al. Tfam, a mitochondrial transcription and packaging factor, imposes a U-turn on mitochondrial DNA , 2011, Nature Structural &Molecular Biology.
[25] Dongchon Kang,et al. Frequent truncating mutation of TFAM induces mitochondrial DNA depletion and apoptotic resistance in microsatellite-unstable colorectal cancer. , 2011, Cancer research.
[26] S. Kuroda,et al. Overexpression of mitochondrial transcription factor A (TFAM) ameliorates delayed neuronal death due to transient forebrain ischemia in mice , 2010, Neuropathology : official journal of the Japanese Society of Neuropathology.
[27] C. Gustafsson,et al. Human Mitochondrial Transcription Revisited , 2010, The Journal of Biological Chemistry.
[28] C. Gustafsson,et al. Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication. , 2010, Molecular cell.
[29] J. N. Spelbrink. Functional organization of mammalian mitochondrial DNA in nucleoids: History, recent developments, and future challenges , 2009, IUBMB life.
[30] H. Nakanishi,et al. Reverse of Age-Dependent Memory Impairment and Mitochondrial DNA Damage in Microglia by an Overexpression of Human Mitochondrial Transcription Factor A in Mice , 2008, The Journal of Neuroscience.
[31] C. Gustafsson,et al. Human mitochondrial RNA polymerase primes lagging-strand DNA synthesis in vitro , 2008, Proceedings of the National Academy of Sciences.
[32] N. Hamasaki,et al. The C-terminal tail of mitochondrial transcription factor a markedly strengthens its general binding to DNA. , 2007, Journal of biochemistry.
[33] N. Hamasaki,et al. Architectural Role of Mitochondrial Transcription Factor A in Maintenance of Human Mitochondrial DNA , 2004, Molecular and Cellular Biology.
[34] M. Falkenberg,et al. Reconstitution of a minimal mtDNA replisome in vitro , 2004, The EMBO journal.
[35] Kjell Hultenby,et al. Mitochondrial transcription factor A regulates mtDNA copy number in mammals. , 2004, Human molecular genetics.
[36] M. Falkenberg,et al. TWINKLE Has 5′ → 3′ DNA Helicase Activity and Is Specifically Stimulated by Mitochondrial Single-stranded DNA-binding Protein* , 2003, Journal of Biological Chemistry.
[37] C. Gustafsson,et al. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA , 2002, Nature Genetics.
[38] D. A. Clayton,et al. Release of replication termination controls mitochondrial DNA copy number after depletion with 2',3'-dideoxycytidine. , 2002, Nucleic acids research.
[39] G. Barsh,et al. Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice , 1998, Nature Genetics.
[40] D. A. Clayton,et al. Addition of a 29 residue carboxyl-terminal tail converts a simple HMG box-containing protein into a transcriptional activator. , 1995, Journal of molecular biology.
[41] C. Saccone,et al. Structural conservation and variation in the D-loop-containing region of vertebrate mitochondrial DNA. , 1986, Journal of molecular biology.
[42] D. A. Clayton,et al. Elongation of displacement-loop strands in human and mouse mitochondrial DNA is arrested near specific template sequences. , 1981, Proceedings of the National Academy of Sciences of the United States of America.
[43] D. Bogenhagen,et al. Mechanism of mitochondrial DNA replication in mouse L-cells: kinetics of synthesis and turnover of the initiation sequence. , 1978, Journal of molecular biology.
[44] OUP accepted manuscript , 2021, Nucleic Acids Research.
[45] G. Wuite,et al. Single-Molecule Measurements Using Acoustic Force Spectroscopy (AFS). , 2018, Methods in molecular biology.
[46] A. Schapira,et al. Mitochondrial disorders: an overview. , 1997, Journal of bioenergetics and biomembranes.
[47] T. Odijk. Stiff chains and filaments under tension , 1995 .