Literature: Surfeit locus 1/Shy1 (IPR002994)
References used in this entry
The following publications were referred to in the abstract:
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
PMID: 9843204 Related citations
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
PMID: 10746561 Related citations
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
PMID: 10647889 Related citations
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
PMID: 11782424 Related citations
The following publications were not referred to in the abstract, but provide useful additional information:
Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome.
Poyau A, Buchet K, Godinot C.
FEBS Lett. 462 416-20 1999
PMID: 10622737 Related citations