Mitochondrial cytochrome c oxidase deficiency
M Rak, P Bénit, D Chrétien, J Bouchereau… - Clinical …, 2016 - portlandpress.com
As with other mitochondrial respiratory chain components, marked clinical and genetic
heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This …
heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This …
Genetics of coronary artery disease
R Roberts - Circulation research, 2014 - Am Heart Assoc
There is almost no data on the genetics of acute coronary syndromes, so this review
discusses primarily the 50 genetic risk variants associated with coronary artery disease that …
discusses primarily the 50 genetic risk variants associated with coronary artery disease that …
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer
Recent sequencing studies have extensively explored the somatic alterations present in the
nuclear genomes of cancers. Although mitochondria control energy metabolism and …
nuclear genomes of cancers. Although mitochondria control energy metabolism and …
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases
Mitochondrial DNA (mtDNA) variants influence the risk of late-onset human diseases, but the
reasons for this are poorly understood. Undertaking a hypothesis-free analysis of 5,689 …
reasons for this are poorly understood. Undertaking a hypothesis-free analysis of 5,689 …
The metazoan landscape of mitochondrial DNA gene order and content is shaped by selection and affects mitochondrial transcription
Mitochondrial DNA (mtDNA) harbors essential genes in most metazoans, yet the regulatory
impact of the multiple evolutionary mtDNA rearrangements has been overlooked. Here, by …
impact of the multiple evolutionary mtDNA rearrangements has been overlooked. Here, by …
The mitochondrial genome–on selective constraints and signatures at the organism, cell, and single mitochondrion levels
Natural selection acts on the phenotype. Therefore, many mistakenly expect to observe its
signatures only in the organism, while overlooking its impact on tissues, cells and …
signatures only in the organism, while overlooking its impact on tissues, cells and …
[HTML][HTML] Comparative analysis of codon usage of mitochondrial genomes provides evolutionary insights into reptiles
P Montana-Lozano, SA Balaguera-Reina… - Gene, 2023 - Elsevier
Current available information on reptile genomes provides great potential for the study of
unique adaptations from a genomic perspective. We compared differences in base …
unique adaptations from a genomic perspective. We compared differences in base …
Mito-nuclear co-evolution: the positive and negative sides of functional ancient mutations
Most cell functions are carried out by interacting factors, thus underlying the functional
importance of genetic interactions between genes, termed epistasis. Epistasis could be …
importance of genetic interactions between genes, termed epistasis. Epistasis could be …
Evolutionary perspectives on the links between mitochondrial genotype and disease phenotype
DK Dowling - Biochimica Et Biophysica Acta (BBA)-General Subjects, 2014 - Elsevier
Background Disorders of the mitochondrial respiratory chain are heterogeneous in their
symptoms and underlying genetics. Simple links between candidate mutations and …
symptoms and underlying genetics. Simple links between candidate mutations and …
NUMT confounding biases mitochondrial heteroplasmy calls in favor of the reference allele
Homology between mitochondrial DNA (mtDNA) and nuclear DNA of mitochondrial origin
(nuMTs) causes confounding when aligning short sequence reads to the reference human …
(nuMTs) causes confounding when aligning short sequence reads to the reference human …