Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency (English)
- New search for: Antonicka, Hana
- New search for: Leary, Scot C.
- New search for: Guercin, Guy-Hellen
- New search for: Agar, Jeffrey N.
- New search for: Horvath, Rita
- New search for: Kennaway, Nancy G.
- New search for: Harding, Cary O.
- New search for: Jaksch, Michaela
- New search for: Shoubridge, Eric A.
- New search for: Antonicka, Hana
- New search for: Leary, Scot C.
- New search for: Guercin, Guy-Hellen
- New search for: Agar, Jeffrey N.
- New search for: Horvath, Rita
- New search for: Kennaway, Nancy G.
- New search for: Harding, Cary O.
- New search for: Jaksch, Michaela
- New search for: Shoubridge, Eric A.
In:
Human molecular genetics
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12
, 20
;
2693-
;
2003
- Article (Journal) / Electronic Resource
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Title:Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
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Contributors:Antonicka, Hana ( author ) / Leary, Scot C. ( author ) / Guercin, Guy-Hellen ( author ) / Agar, Jeffrey N. ( author ) / Horvath, Rita ( author ) / Kennaway, Nancy G. ( author ) / Harding, Cary O. ( author ) / Jaksch, Michaela ( author ) / Shoubridge, Eric A. ( author )
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Published in:Human molecular genetics ; 12, 20 ; 2693-
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Publisher:
- New search for: Oxford University Press
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Publication date:2003-10-16
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 12, Issue 20
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 2569
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The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variantsvan Heel, David A. / Dechairo, Bryan M. / Dawson, Gary / McGovern, Dermot P.B. / Negoro, Kenichi / Carey, Alisoun H. / Cardon, Lon R. / Mackay, Ian / Jewell, Derek P. / Lench, Nicholas J. et al. | 2003
- 2577
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LD mapping of maternally and non-maternally derived alleles and atopy in Fc{varepsilon}RI-{beta}Traherne, James A. / Hill, Michael R. / Hysi, Pirro / D'Amato, Mauro / Broxholme, John / Mott, Richard / Moffatt, Miriam F. / Cookson, William O.C.M. et al. | 2003
- 2587
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The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XIHuynh, Duong P. / Scoles, Daniel R. / Nguyen, Dung / Pulst, Stefan M. et al. | 2003
- 2599
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Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease familiesPankratz, Nathan / Nichols, William C. / Uniacke, Sean K. / Halter, Cheryl / Murrell, Jill / Rudolph, Alice / Shults, Clifford W. / Conneally, P. Michael / Foroud, Tatiana / the Parkinson Study Group, et al. | 2003
- 2609
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Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophyAbu-Baker, Aida / Messaed, Christiane / Laganiere, Janet / Gaspar, Claudia / Brais, Bernard / Rouleau, Guy A. et al. | 2003
- 2625
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Alpha-synuclein degradation by serine protease neurosin: implication for pathogenesis of synucleinopathiesIwata, Atsushi / Maruyama, Mieko / Akagi, Takumi / Hashikawa, Tsutomu / Kanazawa, Ichiro / Tsuji, Shoji / Nukina, Nobuyuki et al. | 2003
- 2637
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Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interferenceAbdelgany, Amr / Wood, Matthew / Beeson, David et al. | 2003
- 2645
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Phenotypic effects of heterozygosity for a BRCA2 mutationWarren, Madhuri / Lord, Christopher J. / Masabanda, Julio / Griffin, Darren / Ashworth, Alan et al. | 2003
- 2657
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Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degenerationHayward, Caroline / Shu, Xinhua / Cideciyan, Artur V. / Lennon, Alan / Barran, Perdita / Zareparsi, Sepideh / Sawyer, Lindsay / Hendry, Grace / Dhillon, Baljean / Milam, Ann H. et al. | 2003
- 2669
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A reporter for amyloid precursor protein {gamma}-secretase activity in DrosophilaGuo, Ming / Hong, Elizabeth J. / Fernandes, Jolene / Zipursky, S. Larry / Hay, Bruce A. et al. | 2003
- 2679
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A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic CohortHaiman, Christopher A. / Stram, Daniel O. / Pike, Malcolm C. / Kolonel, Laurence N. / Burtt, Noel P. / Altshuler, David / Hirschhorn, Joel / Henderson, Brian E. et al. | 2003
- 2693
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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyAntonicka, Hana / Leary, Scot C. / Guercin, Guy-Hellen / Agar, Jeffrey N. / Horvath, Rita / Kennaway, Nancy G. / Harding, Cary O. / Jaksch, Michaela / Shoubridge, Eric A. et al. | 2003
- 2703
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Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary ciliaWard, Christopher J. / Yuan, David / Masyuk, Tatyana V. / Wang, Xiaofang / Punyashthiti, Rachaneekorn / Whelan, Shelly / Bacallao, Robert / Torra, Roser / LaRusso, Nicholas F. / Torres, Vicente E. et al. | 2003
- 2711
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Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeresAlonso, Alicia / Mahmood, Radma / Li, Shulan / Cheung, Fanny / Yoda, Kinya / Warburton, Peter E. et al. | 2003
- 2723
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Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genesHorsthemke, Bernhard / Nazlican, Hülya / Hüsing, Johannes / Klein-Hitpaß, Ludger / Claussen, Uwe / Michel, Susanne / Lich, Christina / Gillessen-Kaesbach, Gabriele / Buiting, Karin et al. | 2003