Results 21 to 30 of about 827,481 (191)
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]
, 2015 Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E +13 more
core +2 more sources
DNA Damage and Base Excision Repair in Mitochondria and Their Role in Aging
Journal of Aging Research, 2011 During the last decades, our knowledge about the processes involved in the aging process has exponentially increased. However, further investigation will be still required to globally understand the complexity of aging.
Ricardo Gredilla
doaj +1 more source
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency [PDF]
, 2004 Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA.
Antonicka, H +10 more
core +4 more sources
Spermatozoon and mitochondrial DNA [PDF]
Reproductive Medicine and Biology, 2002 In eukaryotic cells, mitochondria are the major site of ATP production, which is achieved through the electron‐transport chain and oxidative phosphorylation, according to the energy demand. Mitochondria contain their own genome (mitochondrial DNA, mtDNA) on which a limited number of genes are encoded. In the human sperm, mitochondria helically wrap the
Shuji Hirata +3 more
openaire +3 more sources
A rapid and efficient method for enriching mitochondrial DNA from plants
Mitochondrial DNA. Part B. Resources, 2018 Current mitochondrial purification techniques are tedious and protracted due to their emphasis on recovering physiologically active mitochondria. However, for studies that are exclusively interested in isolating mitochondrial DNA (mtDNA) for applications
Mackenzie M. Strehle +2 more
doaj +1 more source
Cells, 2022 Mitochondria are well known as ‘the powerhouses of the cell’. Indeed, their major role is cellular energy production driven by both mitochondrial and nuclear DNA.
Amira Podolak +2 more
doaj +1 more source
Mitochondrial DNA in Sepsis [PDF]
Current Opinion in Critical Care, 2017 Purpose of review Our understanding of critical illness is transforming as we develop a better understanding of the impact pathogen-associated molecular patterns and damage-associated molecular patterns (DAMPs) have on the pathogenesis of disease. Of the known DAMPs, there is a growing interest in mitochondrial DNA (mtDNA) as a
Kiichi Nakahira +2 more
openaire +3 more sources
Disruption of insulin signalling preserves bioenergetic competence of mitochondria in ageing Caenorhabditis elegans [PDF]
, 2010 Background: The gene daf-2 encodes the single insulin/insulin growth factor-1-like receptor of Caenorhabditis elegans. The reduction-of-function allele e1370 induces several metabolic alterations and doubles lifespan.
Braeckman, Bart +4 more
core +3 more sources
Annals of Medicine, 2005 The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence
Guido Davidzon, Salvatore DiMauro
openaire +3 more sources
Determination of Mitochondrial DNA Upon Drug Treatment
Bio-Protocol, 2015 Drug-induced mitochondrial injury can be caused by many different mechanisms including inhibition of mitochondrial DNA replication, transcription, translation, and altered protein function.
Michel Perron, Joy Feng
doaj +1 more source