PMC Links for Nucleotide (Select 1519315483) - PMC

Select item 48821901.

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 41578412.

Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre

Bárbara J. Henriques, Tânia G. Lucas, João V. Rodrigues, Jane H. Frederiksen, Miguel S. Teixeira, Valeria Tiranti, Peter Bross, Cláudio M. Gomes

PLoS One. 2014; 9(9): e107157. Published online 2014 Sep 8. doi: 10.1371/journal.pone.0107157

PMCID:: PMC4157841

Abstract Article PDF–785K

Select item 11819223.

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem, Gianfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, Maria-Teresa Garcia-Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi-Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani

Am J Hum Genet. 2004 Feb; 74(2): 239–252. Published online 2004 Jan 19. doi: 10.1086/381653

PMCID:: PMC1181922

Abstract Article PDF–937K

Select item 10837324.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 50787865.

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

Abstract Article PDF–661K

Select item 49390146.

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid, Fatma A. Al-Jasmi

Orphanet J Rare Dis. 2016; 11: 94. Published online 2016 Jul 8. doi: 10.1186/s13023-016-0474-3

PMCID:: PMC4939014

Abstract Article PDF–477K

Select item 44662107.

Disruption of Mitochondrion-To-Nucleus Interaction in Deceased Cloned Piglets

Joonghoon Park, Liangxue Lai, Melissa S. Samuel, David Wax, Randall S. Prather, Xiuchun Tian

PLoS One. 2015; 10(6): e0129378. Published online 2015 Jun 11. doi: 10.1371/journal.pone.0129378

PMCID:: PMC4466210

Abstract Article PDF–608K

Select item 25632338.

ETHE1 mutations are specific to ethylmalonic encephalopathy

V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu‐Libdeh, L Cindro‐Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, M Zeviani

J Med Genet. 2006 Apr; 43(4): 340–346. Published online 2005 Sep 23. doi: 10.1136/jmg.2005.036210

PMCID:: PMC2563233

Abstract Article PDF–688K

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