Member database | PANTHER |
PANTHER type | family |
Description Imported from IPR045214
References Imported from IPR045214
1.SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. Nat. Genet. 20, 337-43, (1998). View articlePMID: 9843204
2.Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C. Hum. Genet. 106, 194-205, (2000). View articlePMID: 10746561
3.Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y. Hum. Genet. 105, 560-3, (1999). View articlePMID: 10647889
4.Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome. Barrientos A, Korr D, Tzagoloff A. EMBO J. 21, 43-52, (2002). View articlePMID: 11782424