Sentence examples for mutation in complex from inspiring English sources
Hartmannova, H. et al. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum.
Associations with complex I mtDNA SNPs such as ND4 T12027C and ND5 C12403T have been reported in schizophrenia [59], [60] and ND1 T3644C mutation in complex I in BD [52].
In cells with a mutation in complex IV causing ∼40% residual complex IV activity, the mitochondrial membrane potential was not significantly different from controls.
We have found that a severe mutation in complex I changes the mechanism of maintenance of mitochondrial membrane potential in neurons and astrocytes.
To understand the mechanism of the accelerated release, crystal structures of a Gα i1 β1γ2) A326S mutant and a StNFeoB A143S mutant (both equivalent to the Gαs A366S mutation) in complex with GDP were determined.
The severe mutation in complex I (CY3-I) was not only associated with increased reactive oxygen species production in mitochondria but also with a significant reduction in glutathione concentration in both neurons and astrocytes.
This decrease in r1 is more modest than the decrease caused by the Y254V mutation in complexes with DNA1-H_H.
Indeed, introduction of the Y254V mutation in complexes formed with DNA1-H_H causes ∼1.75 2-fold ∼1.75 2-foldr1 andecrease2-fold decrease in r1 relandve to the wild-type enzyme.
To develop a robust readout for this aspect of mitochondrial dysfunction that permits the screening of drug candidates, we have quantified both the basal cellular radical levels and cell sensitivity to redox perturbation in primary skin fibroblasts derived from patients with various pathogenic mutations in Complex I.
The coding regions may, however, also be a good source of rare mutations in complex diseases, such as migraine.
Recently, haplogroup association studies have been used to define the role of mtDNA mutations in complex diseases and longevity.
