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