PMC Links for Nucleotide (Select 1700660632) - PMC

Select item 61966491.

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica

Andrew E Maclean, Virginia E Kimonis, Janneke Balk

Hum Mol Genet. 2018 Nov 1; 27(21): 3697–3709. Published online 2018 Jul 4. doi: 10.1093/hmg/ddy247

PMCID:: PMC6196649

Select item 54800602.

NUBPL, a novel metastasis‐related gene, promotes colorectal carcinoma cell motility by inducing epithelial–mesenchymal transition

Yuhui Wang, Nan Wu, Donglin Sun, Haiming Sun, Dandan Tong, Duo Liu, Bo Pang, Su Li, Jia Wei, Jialin Dai, Yang Liu, Jing Bai, Jingshu Geng, Songbin Fu, Yan Jin

Cancer Sci. 2017 Jun; 108(6): 1169–1176. Published online 2017 Jun 14. doi: 10.1111/cas.13243

PMCID:: PMC5480060

Abstract Article PDF–2.3M

Select item 43348143.

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

Sergio E. Baranzini, Joanne Wang, Rachel A. Gibson, Nicholas Galwey, Yvonne Naegelin, Frederik Barkhof, Ernst-Wilhelm Radue, Raija L.P. Lindberg, Bernard M.G. Uitdehaag, Michael R. Johnson, Aspasia Angelakopoulou, Leslie Hall, Jill C. Richardson, Rab K. Prinjha, Achim Gass, Jeroen J.G. Geurts, Jolijn Kragt, Madeleine Sombekke, Hugo Vrenken, Pamela Qualley, Robin R. Lincoln, Refujia Gomez, Stacy J. Caillier, Michaela F. George, Hourieh Mousavi, Rosa Guerrero, Darin T. Okuda, Bruce A. C. Cree, Ari J. Green, Emmanuelle Waubant, Douglas S. Goodin, Daniel Pelletier, Paul M. Matthews, Stephen L. Hauser, Ludwig Kappos, Chris H. Polman, Jorge R. Oksenberg

Hum Mol Genet. 2009 Feb 15; 18(4): 767–778. Published online 2008 Nov 14. doi: 10.1093/hmg/ddn388

PMCID:: PMC4334814

Abstract Article PDF–274K

Select item 39965374.

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Wanamaker, Changyu Fan, Song Yi, Murat Tasan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi-Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva

Nat Commun. 2014; 5: 3650. Published online 2014 Apr 11. doi: 10.1038/ncomms4650

Correction in:: Nat Commun. 2023; 14: 569.

PMCID:: PMC3996537

Abstract Article PDF–1.9M

Select item 36623275.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf, Patrick Ferreira, Roelineke J. Lunsing, Leo G. Nijtmans, Anne Mitchell, Hugo A. Arroyo, Dietz Rating, Adeline Vanderver, Carola G.M. van Berkel, Truus E.M. Abbink, Peter Heutink, Marjo S. van der Knaap

Neurology. 2013 Apr 23; 80(17): 1577–1583. doi: 10.1212/WNL.0b013e31828f1914

PMCID:: PMC3662327

Abstract Article PDF–564K

Select item 29779786.

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel A Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger, Michelle C Redman, Esko Wiltshire, Callum J Wilson, David Altshuler, Stacey B Gabriel, Mark J Daly, David R Thorburn, Vamsi K Mootha

Nat Genet. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Nat Genet. 2010 Oct; 42(10): 851–858. Published online 2010 Sep 5. doi: 10.1038/ng.659

PMCID:: PMC2977978

Abstract Article PDF–989K

Select item 29434767.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 27725618.

Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I

Alex D. Sheftel, Oliver Stehling, Antonio J. Pierik, Daili J. A. Netz, Stefan Kerscher, Hans-Peter Elsässer, Ilka Wittig, Janneke Balk, Ulrich Brandt, Roland Lill

Mol Cell Biol. 2009 Nov; 29(22): 6059–6073. Published online 2009 Sep 14. doi: 10.1128/MCB.00817-09

PMCID:: PMC2772561

Abstract Article PDF–3.5M

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