Pub. Date : 2008 Mar
PMID : 18304497
9 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 2 | We identified the gene for the iron-sulfur cluster scaffold protein ISCU as a candidate within a region of shared homozygosity among patients with this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 3 | A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 4 | A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 5 | A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 6 | A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 7 | A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 8 | A marked reduction of ISCU mRNA and mitochondrial ISCU protein in patient muscle was associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis in this disease. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |
| 9 | ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur cluster biosynthesis. | Iron | iron-sulfur cluster assembly enzyme | Homo sapiens |