Citations for
1NDUFV1, NDUFV1D
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
Vilain C, Rens C, Aeby A, Balériaux D, Van Bogaert P, Remiche G, Smet J, Van Coster R, Abramowicz M, Pirson I.
Clin Genet 82(3):264-70. doi: 10.1111/j.1399-0004.2011.01743.x. Epub 2011 Jul 18. 2012
2NDUFV1, NDUFV1D
Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.
Laugel V, This-Bernd V, Cormier-Daire V, Speeg-Schatz C, de Saint-Martin A, Fischbach M.
Pediatr Neurol 36(1):54-7. 2007
3BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001
4NDUFA8, NDUFB6, NDUFS1, NDUFV1, NDUFV1D
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A.
Am J Hum Genet 68(6):1344-52. Epub 2001 May 7. 2001
5NDUFV1
The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I.
de Coo RFM, et al.
Mamm Genome 10(1):49-53. 1999
6NDUFV1, ALXD2
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L.
Nat Genet 21(3):260-1. No abstract available. 1999
7NDUFV1
Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor : is this a link between mitochondrial myopathy and inflammation?
Schuelke M, et al.
Biochem Biophys Res Commun 245 : 599-606. 1998
8NDUFV1
Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.
Ali ST, et al.
Genomics 18 : 435-439. 1993
9NDUFV1
The human mitochondrial NADH : ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.
Spencer SR, et al.
Genomics 14 : 1116-1118. 1992