Results 61 to 70 of about 827,580 (290)

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

Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene [PDF]

, 2001
Mutations in human mitochondrial DNA are a well recognized cause of disease. A mutation at nucleotide position 8993 of human mitochondrial DNA, located within the gene for ATP synthase subunit 6, is associated with the neurological muscle weakness ...
Attardi, Giuseppe, Henderson, Nadine S., Holti, Ian J., Nijtmans, Leo G. J.   +3 more
core  

Mitochondrial DNA and Disease [PDF]

Annals of Medicine, 1997
Mitochondrial diseases are a group of disorders characterized by morphological or functional defects of the mitochondria, the organelles producing most of our cellular energy. As the only extranuclear site carrying genetic information, the mitochondria add an important chapter into the inheritance patterns of genetic diseases. Mitochondrial DNA (mtDNA)
openaire   +2 more sources

Circulating histones as clinical biomarkers in critically ill conditions

FEBS Letters, EarlyView.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez, Juan Carlos Ruiz‐Rodríguez, Ricard Ferrer, Raquel Durá, Antonio Artigas, Iván Bajaña, David Bolado López de Andujar, Irene Cánovas‐Cervera, Adrián Ceccato, Luis Chiscano‐Camón, Elena Climent‐Martinez, Georgia García Fernández, Gemma Goma, Verónica Monforte, Beatriz Quevedo‐Sánchez, Adolf Ruiz‐Sanmartín, Antonio Sierra‐Rivera, Nieves Carbonell Monleón   +17 more
wiley   +1 more source

Generation of somatic mitochondrial DNA-replaced cells for mitochondrial dysfunction treatment

Scientific Reports, 2021
Mitochondrial diseases currently have no cure regardless of whether the cause is a nuclear or mitochondrial genome mutation. Mitochondrial dysfunction notably affects a wide range of disorders in aged individuals, including neurodegenerative diseases ...
Hideki Maeda, Daisuke Kami, Ryotaro Maeda, Akira Shikuma, Satoshi Gojo   +4 more
doaj   +1 more source

Mitochondrial DNA: the overlooked oncogenome? [PDF]

BMC Biology, 2019
Perturbed mitochondrial bioenergetics constitute a core pillar of cancer-associated metabolic dysfunction. While mitochondrial dysfunction in cancer may result from myriad biochemical causes, a historically neglected source is that of the mitochondrial genome. Recent large-scale sequencing efforts and clinical studies have highlighted the prevalence of
Gammage, Payam A., Frezza, Christian
openaire   +6 more sources

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

MtDNA deletions and aging

Frontiers in Aging
Aging is the major risk factor in most of the leading causes of mortality worldwide, yet its fundamental causes mostly remain unclear. One of the clear hallmarks of aging is mitochondrial dysfunction.
Charlotte Sprason, Trudy Tucker, David Clancy   +2 more
doaj   +1 more source

CDK1 Enhances Mitochondrial Bioenergetics for Radiation-Induced DNA Repair

Cell Reports, 2015
Nuclear DNA repair capacity is a critical determinant of cell fate under genotoxic stress conditions. DNA repair is a well-defined energy-consuming process.
Lili Qin, Ming Fan, Demet Candas, Guochun Jiang, Stelios Papadopoulos, Lin Tian, Gayle Woloschak, David J. Grdina, Jian Jian Li   +8 more
doaj   +1 more source

Mitochondrial Dna Replacement Versus Nuclear Dna Persistence

, 2006
In this paper we consider two populations whose generations are not overlapping and whose size is large. The number of males and females in both populations is constant.
Cann R L, Kingman J F C, Maurizio Serva, Serva M, Serva M, Simon D, Thorne A G   +6 more
core   +1 more source