PMC Links for Nucleotide (Select 1813241680) - PMC

Result Filters

Links from Nucleotide

Items: 5

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 43663622.

Iron-sulfur cluster biogenesis in mammalian cells: new insights into the molecular mechanisms of cluster delivery

Nunziata Maio, Tracey. A. Rouault

Biochim Biophys Acta. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Biochim Biophys Acta. 2015 Jun; 1853(6): 1493–1512. Published online 2014 Sep 19. doi: 10.1016/j.bbamcr.2014.09.009

PMCID:: PMC4366362

Abstract Article PDF–1.3M

Select item 35047263.

Tissue Specificity of a Human Mitochondrial Disease: DIFFERENTIATION-ENHANCED MIS-SPLICING OF THE Fe-S SCAFFOLD GENE ISCU RENDERS PATIENT CELLS MORE SENSITIVE TO OXIDATIVE STRESS IN ISCU MYOPATHY

Daniel R. Crooks, Suh Young Jeong, Wing-Hang Tong, Manik C. Ghosh, Hayden Olivierre, Ronald G. Haller, Tracey A. Rouault

J Biol Chem. 2012 Nov 23; 287(48): 40119–40130. Published online 2012 Oct 3. doi: 10.1074/jbc.M112.418889

PMCID:: PMC3504726

Abstract Article PDF–3.4M

Select item 24272124.

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Fanny Mochel, Melanie A. Knight, Wing-Hang Tong, Dena Hernandez, Karen Ayyad, Tanja Taivassalo, Peter M. Andersen, Andrew Singleton, Tracey A. Rouault, Kenneth H. Fischbeck, Ronald G. Haller

Am J Hum Genet. 2008 Mar 3; 82(3): 652–660. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2007.12.012