PMC Links for Protein (Select 74761446) - PMC

Select item 41899061.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond, Anete Rozkalne, Chiara Pantaleoni, Simona Saredi, Vandana A. Gupta, Christine M. Sunu, Timothy W. Yu, Peter B. Kang, Mustafa A. Salih, Marina Mora, Emanuela Gussoni, Christopher A. Walsh, M. Chiara Manzini

Hum Mol Genet. 2014 Nov 1; 23(21): 5781–5792. Published online 2014 Jun 11. doi: 10.1093/hmg/ddu296

PMCID:: PMC4189906

Article PDF–12M

Select item 39191382.

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Lucas T. Jae, Matthijs Raaben, Moniek Riemersma, Ellen van Beusekom, Vincent A. Blomen, Arno Velds, Ron. M. Kerkhoven, Jan E. Carette, Haluk Topaloglu, Peter Meinecke, Marja W. Wessels, Dirk J. Lefeber, Sean P. Whelan, Hans van Bokhoven, Thijn R. Brummelkamp

Science. Author manuscript; available in PMC 2014 Feb 10.

Published in final edited form as: Science. 2013 Apr 26; 340(6131): 479–483. Published online 2013 Mar 21. doi: 10.1126/science.1233675

PMCID:: PMC3919138

Article PDF–3.3M

Select item 38480403.

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

Takako Yoshida-Moriguchi, Tobias Willer, Mary E. Anderson, David Venzke, Tamieka Whyte, Francesco Muntoni, Hane Lee, Stanley F Nelson, Liping Yu, Kevin P. Campbell

Science. Author manuscript; available in PMC 2013 Dec 3.

Published in final edited form as: Science. 2013 Aug 23; 341(6148): 10.1126/science.1239951. Published online 2013 Aug 8. doi: 10.1126/science.1239951

PMCID:: PMC3848040

Article PDF–2.1M

Select item 34120314.

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB

Petra Van Damme, Marta Lasa, Bogdan Polevoda, Cristina Gazquez, Alberto Elosegui-Artola, Duk Soo Kim, Elena De Juan-Pardo, Kimberly Demeyer, Kristine Hole, Esther Larrea, Evy Timmerman, Jesus Prieto, Thomas Arnesen, Fred Sherman, Kris Gevaert, Rafael Aldabe

Proc Natl Acad Sci U S A. 2012 Jul 31; 109(31): 12449–12454. Published online 2012 Jul 18. doi: 10.1073/pnas.1210303109

PMCID:: PMC3412031

Article PDF–958K

Select item 27127195.

Patterns of somatic mutation in human cancer genomes

Christopher Greenman, Philip Stephens, Raffaella Smith, Gillian L. Dalgliesh, Christopher Hunter, Graham Bignell, Helen Davies, Jon Teague, Adam Butler, Claire Stevens, Sarah Edkins, Sarah O'Meara, Imre Vastrik, Esther E. Schmidt, Tim Avis, Syd Barthorpe, Gurpreet Bhamra, Gemma Buck, Bhudipa Choudhury, Jody Clements, Jennifer Cole, Ed Dicks, Simon Forbes, Kris Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jon Hinton, Andy Jenkinson, David Jones, Andy Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, Dave Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Tony Webb, Sofie West, Sara Widaa, Andy Yates, Daniel P. Cahill, David N. Louis, Peter Goldstraw, Andrew G. Nicholson, Francis Brasseur, Leendert Looijenga, Barbara L. Weber, Yoke-Eng Chiew, Anna deFazio, Mel F. Greaves, Anthony R. Green, Peter Campbell, Ewan Birney, Douglas F. Easton, Georgia Chenevix-Trench, Min-Han Tan, Sok Kean Khoo, Bin Tean Teh, Siu Tsan Yuen, Suet Yi Leung, Richard Wooster, P. Andrew Futreal, Michael R. Stratton

Nature. Author manuscript; available in PMC 2009 Jul 20.

Published in final edited form as: Nature. 2007 Mar 8; 446(7132): 153–158. doi: 10.1038/nature05610