Results 11 to 20 of about 10,033,806 (381)
Mitochondrial diseases in adults [PDF]
Mitochondrial medicine is a field that expanded exponentially in the last 30 years. Individually rare, mitochondrial diseases as a whole are probably the most frequent genetic disorder in adults. The complexity of their genotype–phenotype correlation, in
C. La Morgia+4 more
semanticscholar +4 more sources
The biology of mitochondrial disease [PDF]
Mitochondria are subcellular organelles that constitute a metabolic compartment separated from the general cytoplasm by a double layered membrane. The outer membrane serves to regulate access of proteins and metabolites to the mitochondrial compartment, and the convoluted inner mitochondrial membrane is the site of several multicomponent enzyme systems.
Alan R. Clarke
openalex +5 more sources
Mitochondrial diseases in man and mouse.
Over the past 10 years, mitochondrial defects have been implicated in a wide variety of degenerative diseases, aging, and cancer. Studies on patients with these diseases have revealed much about the complexities of mitochondrial genetics, which involves ...
D. Wallace
semanticscholar +1 more source
Expanding and validating the biomarkers for mitochondrial diseases
Mitochondrial diseases are highly heterogeneous metabolic disorders caused by genetic alterations in the mitochondrial DNA (mtDNA) or in the nuclear genome.
A. Maresca+7 more
semanticscholar +1 more source
AimCerebellar neurodegeneration is a main phenotypic manifestation of mitochondrial disorders caused by apoptosis-inducing factor (AIF) deficiency. We assessed the effects of an exercise training intervention at the cerebellum and brain level in a mouse ...
Miguel Fernández-de la Torre+12 more
doaj +1 more source
Simulated hypobaric hypoxia (SHH) training has been used to enhance running performance. However, no studies have evaluated the effects of a single SHH exposure on healthy mice performance and analyzed the changes of mitochondria-related genes in the ...
Fei-Fei Wu+9 more
doaj +1 more source
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander+42 more
core +3 more sources
Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding for proteins involved in oxidative phosphorylation (OXPHOS).
E. Bottani+5 more
semanticscholar +1 more source
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G+14 more
core +1 more source
Strategies for fighting mitochondrial diseases
Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of mutation in mtDNA genes, encoding either proteins (13 subunits of the mitochondrial ...
C. Viscomi, M. Zeviani
semanticscholar +1 more source