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Items: 10

1.
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect
Fabian Baertling, Laura Sánchez-Caballero, Mariël A M van den Brand, Liesbeth T Wintjes, Maaike Brink, Frans A van den Brandt, Callum Wilson, Richard J T Rodenburg, Leo G J Nijtmans
Eur J Hum Genet. 2017 Nov; 25(11): 1273–1277. Published online 2017 Aug 30. doi: 10.1038/ejhg.2017.133
PMCID:
PMC5643967
AbstractArticlePDF–824K
2.
Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function
Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini
Mol Cell. Author manuscript; available in PMC 2017 Aug 18.
Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033
PMCID:
PMC4992456
AbstractArticlePDF–1.7M
3.
Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal
Cell. Author manuscript; available in PMC 2016 Apr 23.
Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013
PMCID:
PMC4441215
AbstractArticlePDF–1.2M
4.
TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex
Virginia Guarani, Joao Paulo, Bo Zhai, Edward L. Huttlin, Steven P. Gygi, J. Wade Harper
Mol Cell Biol. 2014 Mar; 34(5): 847–861. doi: 10.1128/MCB.01551-13
PMCID:
PMC4023825
AbstractArticlePDF–5.5M
5.
Replacement of the C6ORF66 Assembly Factor (NDUFAF4) Restores Complex I Activity in Patient Cells
Dana Marcus, Michal Lichtenstein, Ann Saada, Haya Lorberboum-Galski
Mol Med. 2013; 19(1): 124–134. Published online 2013 May 8. doi: 10.2119/molmed.2012.00343
PMCID:
PMC3745599
AbstractArticlePDF–2.8M
6.
C6ORF66 Is an Assembly Factor of Mitochondrial Complex I
Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg
Am J Hum Genet. 2008 Jan 10; 82(1): 32–38. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.08.003
PMCID:
PMC2253982
AbstractArticlePDF–916K
7.
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies
Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng
Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936
PMCID:
PMC5078786
AbstractArticlePDF–661K
8.
Characterization of the platelet transcriptome by RNA sequencing in patients with acute myocardial infarction
John D. Eicher, Yoshiyuki Wakabayashi, Olga Vitseva, Nada Esa, Yanqin Yang, Jun Zhu, Jane E. Freedman, David D. McManus, Andrew D. Johnson
Platelets. Author manuscript; available in PMC 2017 May 1.
Published in final edited form as: Platelets. 2016 May; 27(3): 230–239. Published online 2015 Sep 14. doi: 10.3109/09537104.2015.1083543
PMCID:
PMC4933502
AbstractArticlePDF–334K
9.
Regulation of intestinal epithelial cells transcriptome by enteric glial cells: impact on intestinal epithelial barrier functions
Laurianne Van Landeghem, Maxime M Mahé, Raluca Teusan, Jean Léger, Isabelle Guisle, Rémi Houlgatte, Michel Neunlist
BMC Genomics. 2009; 10: 507. Published online 2009 Nov 2. doi: 10.1186/1471-2164-10-507
PMCID:
PMC2778665
AbstractArticlePDF–758K
10.
Identification of novel androgen-responsive genes by sequencing of LongSAGE libraries
Tammy L Romanuik, Gang Wang, Robert A Holt, Steven JM Jones, Marco A Marra, Marianne D Sadar
BMC Genomics. 2009; 10: 476. Published online 2009 Oct 15. doi: 10.1186/1471-2164-10-476
PMCID:
PMC2766392
AbstractArticlePDF–641K

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