Citations for
1NDUFA1, NDUFA1D
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, Rauscher C, Koch J, Sperl W.
Mol Genet Metab 103(4):358-61. Epub 2011 May 5. 2011
2NDUFA1, NDUFA1D
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Potluri P, Davila A, Ruiz-Pesini E, Mishmar D, O'Hearn S, Hancock S, Simon M, Scheffler IE, Wallace DC, Procaccio V.
Mol Genet Metab 96(4):189-95. Epub 2009 Jan 29. 2009
3NDUFB11, NDUFA1
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM.
Biochem Biophys Res Commun 355(1):181-7. Epub 2007 Feb 2. 2007
4NDUFA1, NDUFA1D
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J.
Ann Neurol 61(1):73-83. 2007
5NDUFA1
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
Vogel RO, Dieteren CE, van den Heuvel LP, Willems PH, Smeitink JA, Koopman WJ, Nijtmans LG.
J Biol Chem 282(10):7582-90. Epub 2007 Jan 5. 2007
6NDUFA1
Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.
Tretter L, Sipos I, Adam-Vizi V.
Neurochem Res 29(3):569-77. Review. 2004
7NDUFA1
Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.
Yadava N, Potluri P, Smith EN, Bisevac A, Scheffler IE.
J Biol Chem 277(24):21221-30. Epub 2002 Apr 5. 2002
8NDUFA1
cDNA sequencing of nuclear NADH dehydrogenase subunit genes in complex I deficient myopathic patients.
Beskow AH, Emahazion T, Prince JA, Angelini C, Brookes AJ.
Gene Funct Dis 1 : 21-27. 2000
9NDUFA1
The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria.
Au HC, et al.
Proc Natl Acad Sci U S A 96(8):4354-9. 1999
10NDUFA1
The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies : tissue expression and mutation detection.
Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L.
J Inherit Metab Dis 21 : 210-215. 1998
11NDUFA1, NDUFA6, NDUFA7, NDUFB8, NDUFS8
Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping.
Emahazion T, et al.
Cytogenet Cell Genet 82 : 114. 1998
12NDUFA1
Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.
Zhuchenko O, et al.
Genomics 37 : 281-288. 1996