Pathophysiology and genetic mutations in congenital sideroblastic anemia.
Sendai, Japan. In Pediatr Int, 2013
Other known etiologies include mutations in the erythroid specific mitochondrial transporter (SLC25A38), adenosine triphosphate (ATP) binding cassette B7 (ABCB7), glutaredoxin 5 (GLRX5), thiamine transporter SLC19A2, the RNA-modifying enzyme pseudouridine synthase (PUS1), and mitochondrial tyrosyl-tRNA synthase (YARS2), as well as mitochondrial DNA deletions.
Plasma membrane proteomics of human embryonic stem cells and human embryonal carcinoma cells.
Utrecht, Netherlands. In J Proteome Res, 2008
These included GAPDH, LDHB, YARS2, CLSTN3, CSDA, LRP6, NDUFA9, and NOL1, which are known to be upregulated in testicular cancer.