Johannes A Mayr et al.
American journal of human genetics, 80(3), 478-484 (2007-02-03)
The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). We identified a homozygous mutation--c.215G-->A (p.Gly72Glu)--in the alternatively spliced exon 3A of this enzyme in two siblings...
Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.
The Journal of Biological Chemistry (2016)
Erin L Seifert et al.
The Journal of biological chemistry, 291(50), 26126-26137 (2016-10-27)
The relevance of mitochondrial phosphate carrier (PiC), encoded by SLC25A3, in bioenergetics is well accepted. However, little is known about the mechanisms mediating the cellular impairments induced by pathological SLC25A3 variants. To this end, we investigated the pathogenicity of a...
Aren Boulet et al.
The Journal of biological chemistry, 293(6), 1887-1896 (2017-12-15)
Copper is required for the activity of cytochrome c oxidase (COX), the terminal electron-accepting complex of the mitochondrial respiratory chain. The likely source of copper used for COX biogenesis is a labile pool found in the mitochondrial matrix. In mammals...
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.
American Journal of Human Genetics (2007)