Literature DB >> 15235026

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

C E Oquendo, H Antonicka, E A Shoubridge, W Reardon, G K Brown.   

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Year:  2004        PMID： 15235026      PMCID： PMC1735852          DOI： 10.1136/jmg.2003.017426

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  16 in total

Review 1.  Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.

Authors:  Alessandra Torraco; Susana Peralta; Luisa Iommarini; Francisca Diaz
Journal:  Mitochondrion       Date:  2015-02-04       Impact factor: 4.160

Review 2.  Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Authors:  Francisca Diaz; Heike Kotarsky; Vineta Fellman; Carlos T Moraes
Journal:  Semin Fetal Neonatal Med       Date:  2011-06-15       Impact factor: 3.926

3.  A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Authors:  Sze Chern Lim; Katherine R Smith; David A Stroud; Alison G Compton; Elena J Tucker; Ayan Dasvarma; Luke C Gandolfo; Justine E Marum; Matthew McKenzie; Heidi L Peters; David Mowat; Peter G Procopis; Bridget Wilcken; John Christodoulou; Garry K Brown; Michael T Ryan; Melanie Bahlo; David R Thorburn
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025

4.  Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.

Authors:  Samantha Swenson; Andrew Cannon; Nicholas J Harris; Nicholas G Taylor; Jennifer L Fox; Oleh Khalimonchuk
Journal:  J Biol Chem       Date:  2016-03-03       Impact factor: 5.157

Review 5.  Mitochondrial cytochrome c oxidase deficiency.

Authors:  Malgorzata Rak; Paule Bénit; Dominique Chrétien; Juliette Bouchereau; Manuel Schiff; Riyad El-Khoury; Alexander Tzagoloff; Pierre Rustin
Journal:  Clin Sci (Lond)       Date:  2016-03       Impact factor: 6.124

6.  Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array.

Authors:  Nianjun Liu; Marguerite R Irvin; Degui Zhi; Amit Patki; T Mark Beasley; Deborah A Nickerson; Charles E Hill; Jinbo Chen; Stephen E Kimmel; Nita A Limdi
Journal:  Pharmacogenomics       Date:  2017-07-07       Impact factor: 2.533

Review 7.  Biosynthesis and trafficking of heme o and heme a: new structural insights and their implications for reaction mechanisms and prenylated heme transfer.

Authors:  Elise D Rivett; Lim Heo; Michael Feig; Eric L Hegg
Journal:  Crit Rev Biochem Mol Biol       Date:  2021-08-25       Impact factor: 8.250

8.  Loss of LRPPRC causes ATP synthase deficiency.

Authors:  Arnaud Mourier; Benedetta Ruzzenente; Tobias Brandt; Werner Kühlbrandt; Nils-Göran Larsson
Journal:  Hum Mol Genet       Date:  2014-01-06       Impact factor: 6.150

9.  Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

Authors:  M Gerards; W Sluiter; B J C van den Bosch; L E A de Wit; C M H Calis; M Frentzen; H Akbari; K Schoonderwoerd; H R Scholte; R J Jongbloed; A T M Hendrickx; I F M de Coo; H J M Smeets
Journal:  J Med Genet       Date:  2009-06-18       Impact factor: 6.318

10.  Enhancement of cell proliferation in various mammalian cell lines by gene insertion of a cyclin-dependent kinase homolog.

Authors:  Pratik Jaluria; Michael Betenbaugh; Konstantinos Konstantopoulos; Joseph Shiloach
Journal:  BMC Biotechnol       Date:  2007-10-18       Impact factor: 2.563
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