PMC Links for Protein (Select 5729820) - PMC

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 57341832.

New insights into the phenotype of FARS2 deficiency

Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boel De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster

Mol Genet Metab. 2017 Dec; 122(4): 172–181. doi: 10.1016/j.ymgme.2017.10.004

PMCID:: PMC5734183

Abstract Article

Select item 55215483.

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

Ekaterine Kartvelishvili, Dmitry Tworowski, Hilary Vernon, Nina Moor, Jing Wang, Lee‐Jun Wong, Zofia Chrzanowska‐Lightowlers, Mark Safro

Protein Sci. 2017 Aug; 26(8): 1505–1516. Published online 2017 May 3. doi: 10.1002/pro.3176

PMCID:: PMC5521548

Abstract Article PDF–3.0M

Select item 23763064.

Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase

Inna Levin, Naama Kessler, Nina Moor, Liron Klipcan, Emine Koc, Paul Templeton, Linda Spremulli, Mark Safro

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007 Sep 1; 63(Pt 9): 761–764. Published online 2007 Aug 25. doi: 10.1107/S1744309107038651

PMCID:: PMC2376306

Abstract Article PDF–132K

Select item 39279545.

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

Hue Tran Hornig-Do, Arianna Montanari, Agata Rozanska, Helen A Tuppen, Abdulraheem A Almalki, Dyg P Abg-Kamaludin, Laura Frontali, Silvia Francisci, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers

EMBO Mol Med. 2014 Feb; 6(2): 183–193. Published online 2014 Jan 10. doi: 10.1002/emmm.201303202

PMCID:: PMC3927954

Abstract Article PDF–1.7M

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