PMC Links for Nucleotide (Select 1756309439) - PMC

Select item 54448681.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency

Mariella T. Simon, Bobby G. Ng, Marisa W. Friederich, Raymond Y. Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J. Buckingham, Richard Chang, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Johan L.K. Van Hove, Hudson H. Freeze, Jose E. Abdenur

Mitochondrion. Author manuscript; available in PMC 2017 May 25.

Published in final edited form as: Mitochondrion. 2017 May; 34: 84–90. Published online 2017 Feb 12. doi: 10.1016/j.mito.2017.02.004

PMCID:: PMC5444868

Abstract Article PDF–448K

Select item 53097012.

Comparative influenza protein interactomes identify the role of plakophilin 2 in virus restriction

Lingyan Wang, Bishi Fu, Wenjun Li, Girish Patil, Lin Liu, Martin E. Dorf, Shitao Li

Nat Commun. 2017; 8: 13876. Published online 2017 Feb 7. doi: 10.1038/ncomms13876

PMCID:: PMC5309701

Abstract Article PDF–1.9M

Select item 48821903.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 47047814.

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki

PLoS Genet. 2016 Jan; 12(1): e1005679. Published online 2016 Jan 7. doi: 10.1371/journal.pgen.1005679

PMCID:: PMC4704781

Abstract Article PDF–2.4M

Select item 43696435.

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Sara Brito, Kyle Thompson, Jaume Campistol, Jaime Colomer, Steven A. Hardy, Langping He, Ana Fernández-Marmiesse, Lourdes Palacios, Cristina Jou, Cecilia Jiménez-Mallebrera, Judith Armstrong, Raquel Montero, Rafael Artuch, Christin Tischner, Tina Wenz, Robert McFarland, Robert W. Taylor

Front Genet. 2015; 6: 102. Published online 2015 Mar 23. doi: 10.3389/fgene.2015.00102

Correction in:: Front Genet. 2015; 6: 254.

PMCID:: PMC4369643

Abstract Article PDF–1.2M

Select item 30620006.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Paulien Smits, Hana Antonicka, Peter M van Hasselt, Woranontee Weraarpachai, Wolfram Haller, Marieke Schreurs, Hanka Venselaar, Richard J Rodenburg, Jan A Smeitink, Lambert P van den Heuvel

Eur J Hum Genet. 2011 Mar; 19(3): 275–279. Published online 2010 Dec 1. doi: 10.1038/ejhg.2010.208

PMCID:: PMC3062000

Abstract Article PDF–358K

Select item 17853207.

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, René Massimiliano Marsano, Edoardo Malfatti, Erika Fernandez-Vizarra, Claudia Donnini, Paolo Mereghetti, Luca De Gioia, Alberto Burlina, Claudio Castellan, Giacomo P. Comi, Salvatore Savasta, Iliana Ferrero, Massimo Zeviani

Am J Hum Genet. 2007 Jan; 80(1): 44–58. Published online 2006 Nov 15. doi: 10.1086/510559

Correction in:: Am J Hum Genet. 2007 Mar; 80(3): 580.

PMCID:: PMC1785320

Abstract Article PDF–3.8M

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