Results 61 to 70 of about 3,314,237 (327)

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Frontiers in Genetics, 2020
Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described.
Dario Ronchi, Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Andreina Bordoni, Francesca Tagliavini, Manuela Contin, Manuela Contin, Daniela Piga, Monica Sciacco, Cristina Saetti, Cristina Saetti, Valerio Carelli, Valerio Carelli, Giacomo Pietro Comi, Giacomo Pietro Comi   +17 more
doaj   +1 more source

Ethics of modifying the mitochondrial genome [PDF]

, 2010
Recent preclinical studies have shown the feasibility of specific variants of nuclear transfer to prevent mitochondrial DNA disorders. Nuclear transfer could be a valuable reproductive option for carriers of mitochondrial mutations.
Bredenoord, A L, de Wert, G, Dondorp, W, Pennings, Guido   +3 more
core   +3 more sources

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Alterations of the mitochondrial proteome caused by the absence of mitochondrial DNA: A proteomic view [PDF]

, 2006
The proper functioning of mitochondria requires that both the mitochondrial and the nuclear genome are functional. To investigate the importance of the mitochondrial genome, which encodes only 13 subunits of the respiratory complexes, the mitochondrial ...
Abdul, Appleby, Armstrong, Bai, Bourges, Buchet, Chai, Claros, Da Cruz, Dey, Du, Garcia, Gianazza, Joseph, King, King, Lescuyer, Luche, Manjasetty, Martinus, Perkins, Rabilloud, Rabilloud, Rabilloud, Rabilloud, Rabilloud, Santoni, Sharma, Sharp, Sherer, Singh, Sinha, Suzuki, Tastet, Taylor, Tryoen-Toth, Ugalde, Wiedemann, Zamzami, Zischka   +39 more
core   +4 more sources

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

PLoS Genetics, 2016
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic ...
Ilaria Dalla Rosa, Yolanda Cámara, Romina Durigon, Chloe F Moss, Sara Vidoni, Gokhan Akman, Lilian Hunt, Mark A Johnson, Sarah Grocott, Liya Wang, David R Thorburn, Michio Hirano, Joanna Poulton, Robert W Taylor, Greg Elgar, Ramon Martí, Peter Voshol, Ian J Holt, Antonella Spinazzola   +18 more
doaj   +1 more source

MITOCHONDRIAL DNA POLYMORPHISMS AND FERTILITY IN BEEF CATTLE [PDF]

, 2002
Two regions of mitochondrial DNA, D-loop and ND-5 were characterized using polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) involving 422 beef cattle of Hereford and composite breeds from Wokalup’s ...
., Sutarno, A.J, Lymbery, J.M, Cummins, RCA, Thompson   +3 more
core  

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Inhibition of mTOR prevents ROS production initiated by ethidium bromide-induced mitochondrial DNA depletion.

Frontiers in Endocrinology, 2014
The regulation of mitochondrial mass and DNA content involves a complex interaction between mitochondrial DNA replication machinery, functional components of the electron transport chain, selective clearance of mitochondria, and nuclear gene expression ...
Timothy eNacarelli, Ashley eAzar, Christian eSell   +2 more
doaj   +1 more source

Sex-Biased Gene Flow Among Elk in the Greater Yellowstone Ecosystem [PDF]

, 2014
We quantified patterns of population genetic structure to help understand gene flow among elk populations across the Greater Yellowstone Ecosystem.
Anderson, Neil, Beja-Pereira, Albano, Chen, Shanyuan, Cross, Paul C., Ebinger, Michael, Edwards, Hank, Garrott, Robert A., Hand, Brian K., Kardos, Marty D., Kauffman, Matt, Landguth, Erin L., Luikart, Gordon, Middleton, Arthur, Schwartz, Michael K., Scurlock, Brandon, White, P.J., Zager, Pete   +16 more
core   +1 more source