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{{Infobox_gene}}
{{PBB_Controls
'''NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''NDUFV1'' [[gene]].<ref name="pmid1478657">{{cite journal | vauthors = Spencer SR, Taylor JB, Cowell IG, Xia CL, Pemble SE, Ketterer B | title = The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13 | journal = Genomics | volume = 14 | issue = 4 | pages = 1116–8 | date = Dec 1992 | pmid = 1478657 | pmc =  | doi = 10.1016/S0888-7543(05)80144-2 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4723| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The NDUFV1 gene encodes the 51-kD subunit of [[NADH dehydrogenase|complex I]] (NADH:ubiquinone oxidoreductase) of the mitochondrial [[respiratory chain]].<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
| HGNCid = 7716
| Symbol = NDUFV1
| AltSymbols =; UQOR1
| OMIM = 161015
| ECnumber = 
| Homologene = 5151
| MGIid = 107851
| GeneAtlas_image1 = PBB_GE_NDUFV1_208714_at_tn.png
| Function = {{GNF_GO|id=GO:0003954 |text = NADH dehydrogenase activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0008137 |text = NADH dehydrogenase (ubiquinone) activity}} {{GNF_GO|id=GO:0010181 |text = FMN binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0051287 |text = NAD binding}} {{GNF_GO|id=GO:0051539 |text = 4 iron, 4 sulfur cluster binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005743 |text = mitochondrial inner membrane}}
| Process = {{GNF_GO|id=GO:0006120 |text = mitochondrial electron transport, NADH to ubiquinone}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4723
    | Hs_Ensembl = ENSG00000167792
    | Hs_RefseqProtein = NP_009034
    | Hs_RefseqmRNA = NM_007103
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 67130974
    | Hs_GenLoc_end = 67136581
    | Hs_Uniprot = P49821
    | Mm_EntrezGene = 17995
    | Mm_Ensembl = ENSMUSG00000037916
    | Mm_RefseqmRNA = NM_133666
    | Mm_RefseqProtein = NP_598427
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 4007505
    | Mm_GenLoc_end = 4012725
    | Mm_Uniprot = Q91YT0
  }}
}}
'''NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa''', also known as '''NDUFV1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4723| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{PBB_Summary
| section_title =  
| summary_text = The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4723| accessdate = }}</ref>
}}


==References==
Mutations in the NDUFV1 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders.<ref>{{cite journal | vauthors = Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR | title = NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency | journal = The Journal of Clinical Investigation | volume = 114 | issue = 6 | pages = 837–45 | date = Sep 2004 | pmid = 15372108 | doi = 10.1172/JCI20683 | pmc=516258}}</ref><ref>{{cite journal | vauthors = McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR | title = De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency | journal = Annals of Neurology | volume = 55 | issue = 1 | pages = 58–64 | date = Jan 2004 | pmid = 14705112 | doi = 10.1002/ana.10787 }}</ref> Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible.<ref>{{cite journal | vauthors = Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H | title = Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing | journal = Journal of Medical Genetics | volume = 49 | issue = 4 | pages = 277–83 | date = Apr 2012 | pmid = 22499348 | doi = 10.1136/jmedgenet-2012-100846 }}</ref> However, the majority of cases are caused by mutations in nuclear-encoded genes.<ref>{{cite journal | vauthors = Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP | title = Isolated complex I deficiency in children: clinical, biochemical and genetic aspects | journal = Human Mutation | volume = 15 | issue = 2 | pages = 123–34 | date = 2000 | pmid = 10649489 | doi = 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P }}</ref><ref>{{cite journal | vauthors = Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA | title = Respiratory chain complex I deficiency | journal = American Journal of Medical Genetics | volume = 106 | issue = 1 | pages = 37–45 | date = 2001 | pmid = 11579423 | doi = 10.1002/ajmg.1397 }}</ref> It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.<ref>{{cite journal | vauthors = Robinson BH | title = Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect | journal = Biochimica et Biophysica Acta | volume = 1364 | issue = 2 | pages = 271–86 | date = May 1998 | pmid = 9593934 | doi=10.1016/s0005-2728(98)00033-4}}</ref>
{{reflist|2}}
 
==Further reading==
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
| citations =
* {{cite journal | vauthors = Ali ST, Duncan AM, Schappert K, Heng HH, Tsui LC, Chow W, Robinson BH | title = Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13 | journal = Genomics | volume = 18 | issue = 2 | pages = 435–9 | date = Nov 1993 | pmid = 8288251 | doi = 10.1006/geno.1993.1493 }}
*{{cite journal | author=Spencer SR, Taylor JB, Cowell IG, ''et al.'' |title=The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13. |journal=Genomics |volume=14 |issue= 4 |pages= 1116-8 |year= 1993 |pmid= 1478657 |doi=  }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L | title = 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? | journal = Biochemical and Biophysical Research Communications | volume = 245 | issue = 2 | pages = 599–606 | date = Apr 1998 | pmid = 9571201 | doi = 10.1006/bbrc.1998.8486 }}
*{{cite journal | author=Ali ST, Duncan AM, Schappert K, ''et al.'' |title=Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. |journal=Genomics |volume=18 |issue= 2 |pages= 435-9 |year= 1994 |pmid= 8288251 |doi= 10.1006/geno.1993.1493 }}
* {{cite journal | vauthors = Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA | title = cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed | journal = Biochemical and Biophysical Research Communications | volume = 253 | issue = 2 | pages = 415–22 | date = Dec 1998 | pmid = 9878551 | doi = 10.1006/bbrc.1998.9786 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
* {{cite journal | vauthors = de Coo RF, Buddiger PA, Smeets HJ, van Oost BA | title = The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I | journal = Mammalian Genome | volume = 10 | issue = 1 | pages = 49–53 | date = Jan 1999 | pmid = 9892733 | doi = 10.1007/s003359900941 }}
*{{cite journal | author=Schuelke M, Loeffen J, Mariman E, ''et al.'' |title=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? |journal=Biochem. Biophys. Res. Commun. |volume=245 |issue= 2 |pages= 599-606 |year= 1998 |pmid= 9571201 |doi= 10.1006/bbrc.1998.8486 }}
* {{cite journal | vauthors = Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L | title = Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy | journal = Nature Genetics | volume = 21 | issue = 3 | pages = 260–1 | date = Mar 1999 | pmid = 10080174 | doi = 10.1038/6772 }}
*{{cite journal | author=Loeffen JL, Triepels RH, van den Heuvel LP, ''et al.'' |title=cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. |journal=Biochem. Biophys. Res. Commun. |volume=253 |issue= 2 |pages= 415-22 |year= 1999 |pmid= 9878551 |doi= 10.1006/bbrc.1998.9786 }}
* {{cite journal | vauthors = Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL | title = Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 17 | pages = 9543–8 | date = Aug 2000 | pmid = 10931946 | pmc = 16901 | doi = 10.1073/pnas.160270997 }}
*{{cite journal | author=de Coo RF, Buddiger PA, Smeets HJ, van Oost BA |title=The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I. |journal=Mamm. Genome |volume=10 |issue= 1 |pages= 49-53 |year= 1999 |pmid= 9892733 |doi= }}
* {{cite journal | vauthors = Triepels RH, Hanson BJ, van den Heuvel LP, Sundell L, Marusich MF, Smeitink JA, Capaldi RA | title = Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns | journal = The Journal of Biological Chemistry | volume = 276 | issue = 12 | pages = 8892–7 | date = Mar 2001 | pmid = 11112787 | doi = 10.1074/jbc.M009903200 }}
*{{cite journal | author=Schuelke M, Smeitink J, Mariman E, ''et al.'' |title=Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. |journal=Nat. Genet. |volume=21 |issue= 3 |pages= 260-1 |year= 1999 |pmid= 10080174 |doi= 10.1038/6772 }}
* {{cite journal | vauthors = Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A | title = Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 117–20 | date = Jan 2001 | pmid = 11138011 | doi = 10.1038/83679 }}
*{{cite journal | author=Hu RM, Han ZG, Song HD, ''et al.'' |title=Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 17 |pages= 9543-8 |year= 2000 |pmid= 10931946 |doi= 10.1073/pnas.160270997 }}
* {{cite journal | vauthors = Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A | title = Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency | journal = American Journal of Human Genetics | volume = 68 | issue = 6 | pages = 1344–52 | date = Jun 2001 | pmid = 11349233 | pmc = 1226121 | doi = 10.1086/320603 }}
*{{cite journal | author=Triepels RH, Hanson BJ, van den Heuvel LP, ''et al.'' |title=Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. |journal=J. Biol. Chem. |volume=276 |issue= 12 |pages= 8892-7 |year= 2001 |pmid= 11112787 |doi= 10.1074/jbc.M009903200 }}
* {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
*{{cite journal | author=Brenner M, Johnson AB, Boespflug-Tanguy O, ''et al.'' |title=Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 117-20 |year= 2001 |pmid= 11138011 |doi= 10.1038/83679 }}
*{{cite journal | author=Bénit P, Chretien D, Kadhom N, ''et al.'' |title=Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1344-52 |year= 2001 |pmid= 11349233 |doi= }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{NADH or NADPH oxidoreductases}}
{{WikiDoc Sources}}
{{Enzymes}}
{{Portal bar|Molecular and Cellular Biology|border=no}}
 
[[Category:Human proteins]]
[[Category:EC 1.6.5]]
 
 
{{gene-11-stub}}

Revision as of 12:47, 5 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial is an enzyme that in humans is encoded by the NDUFV1 gene.[1][2]

The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[2]

Clinical significance

Mutations in the NDUFV1 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders.[3][4] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible.[5] However, the majority of cases are caused by mutations in nuclear-encoded genes.[6][7] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.[8]

References

  1. ↑ Spencer SR, Taylor JB, Cowell IG, Xia CL, Pemble SE, Ketterer B (Dec 1992). "The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13". Genomics. 14 (4): 1116–8. doi:10.1016/S0888-7543(05)80144-2. PMID 1478657.
  2. ↑ 2.0 2.1 "Entrez Gene: NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa".
  3. ↑ Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR (Sep 2004). "NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency". The Journal of Clinical Investigation. 114 (6): 837–45. doi:10.1172/JCI20683. PMC 516258. PMID 15372108.
  4. ↑ McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR (Jan 2004). "De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency". Annals of Neurology. 55 (1): 58–64. doi:10.1002/ana.10787. PMID 14705112.
  5. ↑ Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H (Apr 2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing". Journal of Medical Genetics. 49 (4): 277–83. doi:10.1136/jmedgenet-2012-100846. PMID 22499348.
  6. ↑ Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP (2000). "Isolated complex I deficiency in children: clinical, biochemical and genetic aspects". Human Mutation. 15 (2): 123–34. doi:10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. PMID 10649489.
  7. ↑ Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA (2001). "Respiratory chain complex I deficiency". American Journal of Medical Genetics. 106 (1): 37–45. doi:10.1002/ajmg.1397. PMID 11579423.
  8. ↑ Robinson BH (May 1998). "Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect". Biochimica et Biophysica Acta. 1364 (2): 271–86. doi:10.1016/s0005-2728(98)00033-4. PMID 9593934.

Further reading

  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Ali ST, Duncan AM, Schappert K, Heng HH, Tsui LC, Chow W, Robinson BH (Nov 1993). "Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13". Genomics. 18 (2): 435–9. doi:10.1006/geno.1993.1493. PMID 8288251.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Schuelke M, Loeffen J, Mariman E, Smeitink J, van den Heuvel L (Apr 1998). "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?". Biochemical and Biophysical Research Communications. 245 (2): 599–606. doi:10.1006/bbrc.1998.8486. PMID 9571201.
  • Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA (Dec 1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochemical and Biophysical Research Communications. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
  • de Coo RF, Buddiger PA, Smeets HJ, van Oost BA (Jan 1999). "The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I". Mammalian Genome. 10 (1): 49–53. doi:10.1007/s003359900941. PMID 9892733.
  • Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L (Mar 1999). "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy". Nature Genetics. 21 (3): 260–1. doi:10.1038/6772. PMID 10080174.
  • Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (Aug 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
  • Triepels RH, Hanson BJ, van den Heuvel LP, Sundell L, Marusich MF, Smeitink JA, Capaldi RA (Mar 2001). "Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns". The Journal of Biological Chemistry. 276 (12): 8892–7. doi:10.1074/jbc.M009903200. PMID 11112787.
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