id author title date pages extension mime words sentences flesch summary cache txt work_awdm4uorxbeabii75j6mtqfpte Ferdinando Palmieri Diseases caused by defects of mitochondrial carriers: A review 2008.0 15 .pdf application/pdf 15580 1179 52 from mutations in nuclear genes encoding mitochondrial proteins have been characterized. nine are caused by defects of mitochondrial carriers, a family of nuclear-coded proteins that shuttle a variety of Respiratory chain and oxidative phosphorylation diseases can also be caused by mutations of nuclear DNA genes Furthermore, mitochondria communicate with other cell compartments by means of transport proteins (carriers) present in the mitochondrial membrane that allow the selective passage of solutes in and addition, some cancers are caused by mutations in nuclear genes encoding mitochondrial proteins [11,12]. Mitochondrial carrier-related diseases are rare errors of metabolism caused by alterations of nuclear genes encoding mitochondrial These diseases should also include adPEO, which is caused by heterozygous mutations of the ADP/ATP carrier isoform 1 gene (as well as of Mutations in the SLC25A22 gene encoding isoform 1 of the glutamate carrier (GC1) cause a form of early myoclonic epilepsy (EME), ./cache/work_awdm4uorxbeabii75j6mtqfpte.pdf ./txt/work_awdm4uorxbeabii75j6mtqfpte.txt