PMC Links for Protein (Select 7661786) - PMC

Select item 56439671.

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

Abstract Article PDF–824K

Select item 49924562.

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

Abstract Article PDF–1.7M

Select item 44412153.

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

Abstract Article PDF–1.2M

Select item 40238254.

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

Abstract Article PDF–5.5M

Select item 37455995.

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

Abstract Article PDF–2.8M

Select item 22539826.

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

Abstract Article PDF–916K

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