Results 171 to 180 of about 12,888 (214)

Conserved and divergent mitochondrial assemblies in kinetoplastid parasites. [PDF]

open access: yesMol Cell
Solayman M   +14 more
europepmc   +1 more source

The Citric Acid Cycle Modulates Neurologic Health and Is a Therapeutic Target of Dietary and Genetic Modification in Metabolic Disease. [PDF]

open access: yesGenes (Basel)
Fogle KJ   +7 more
europepmc   +1 more source

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset [PDF]

open access: yesCells, 2022
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathogenic homoplasmic NC_012920.1(MT-ATP6):m.9035T>C variant in MT-ATP6.
Yılmaz Yıldız   +2 more
exaly   +8 more sources
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Mitochondrial electroporation and in organello RNA editing of chimeric atp6 transcripts

Molecular Genetics and Genomics, 2005
The Sorghum bicolor atp6-1 gene and chimeric atp6 genes with additional maize sequences were introduced into isolated maize mitochondria via electroporation. Transcripts isolated after in vitro incubation of the transformed organelles were then analysed for RNA editing. Transcripts of the S.
Frank Kempken, Matthias Staudinger
exaly   +3 more sources

Identification of Human‐Specific Adaptation Sites of ATP6

Annals of the New York Academy of Sciences, 2005
Abstract: Mitochondria play an essential role in forming ATP and generating heat. The proportion of these two depends on the coupling efficiency of electrochemical gradient to synthesize ATP. Therefore, an increased basal metabolic rate caused by partial uncoupling of the mitochondria can be balanced by a high caloric intake provided by a high‐fat ...
Bey-Liing, Mau   +2 more
openaire   +2 more sources

Use of atp6 in Fungal Phylogenetics: An Example from the Boletales

Molecular Phylogenetics and Evolution, 1999
Complete nucleotide sequences have been determined for atp6 from Suillus luteus and cox3 from Suillus sinuspaulianus (Boletales, Hymenomycetes, Basidiomycota), which code for ATPase subunit 6 and cytochrome oxidase subunit 3, respectively. These sequences were used to design PCR primers for the amplification of partial atp6 and cox3 sequences from ...
A M, Kretzer, T D, Bruns
openaire   +2 more sources

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Molecular Genetics and Metabolism, 2021
Elevated citrulline and C5-OH levels are reported as part of the newborn screening of core and secondary disorders on the Recommended Uniform Screening Panel (RUSP). Additionally, some state laboratory newborn screening programs report low citrulline levels, which may be observed in proximal urea cycle disorders.
Ryan H, Peretz   +3 more
openaire   +2 more sources

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