PMC Links for Nucleotide (Select 1519243165) - PMC

Select item 59843451.

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

Austin A. Larson, Peter R. Baker, II, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore

Skelet Muscle. 2018; 8: 17. Published online 2018 May 31. doi: 10.1186/s13395-018-0163-0

PMCID:: PMC5984345

Abstract Article PDF–5.8M

Select item 48318772.

trappc11 is required for protein glycosylation in zebrafish and humans

Charles DeRossi, Ana Vacaru, Ruhina Rafiq, Ayca Cinaroglu, Dru Imrie, Shikha Nayar, Anastasia Baryshnikova, Miroslav P. Milev, Daniela Stanga, Dhara Kadakia, Ningguo Gao, Jaime Chu, Hudson H. Freeze, Mark A. Lehrman, Michael Sacher, Kirsten C. Sadler

Mol Biol Cell. 2016 Apr 15; 27(8): 1220–1234. doi: 10.1091/mbc.E15-08-0557

PMCID:: PMC4831877

Abstract Article PDF–6.5M

Select item 37107573.

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, Jürgen-Christoph von Kleist-Retzow, Daniela Stanga, Yun Li, Francois P. Bernier, Catrina M. Loucks, Radu Wirth, Eric G. Puffenberger, Robert A. Hegele, Julia Schreml, Gabriel Lapointe, Katharina Keupp, Christopher L. Brett, Rebecca Anderson, Andreas Hahn, A. Micheil Innes, Oksana Suchowersky, Marilyn B. Mets, Gudrun Nürnberg, D. Ross McLeod, Holger Thiele, Darrel Waggoner, Janine Altmüller, Kym M. Boycott, Benedikt Schoser, Peter Nürnberg, Carole Ober, Raoul Heller, Jillian S. Parboosingh, Bernd Wollnik, Michael Sacher, Ryan E. Lamont

Am J Hum Genet. 2013 Jul 11; 93(1): 181–190. doi: 10.1016/j.ajhg.2013.05.028

PMCID:: PMC3710757

Abstract Article PDF–1.5M

Select item 31137724.

C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking

P. James Scrivens, Baraa Noueihed, Nassim Shahrzad, Sokunthear Hul, Stephanie Brunet, Michael Sacher

Mol Biol Cell. 2011 Jun 15; 22(12): 2083–2093. doi: 10.1091/mbc.E10-11-0873

PMCID:: PMC3113772

Abstract Article PDF–2.6M

Select item 28244595.

A genome-wide RNA interference screen identifies two novel components of the metazoan secretory pathway

Franz Wendler, Alison K Gillingham, Rita Sinka, Cláudia Rosa-Ferreira, David E Gordon, Xavier Franch-Marro, Andrew A Peden, Jean-Paul Vincent, Sean Munro

EMBO J. 2010 Jan 20; 29(2): 304–314. Published online 2009 Nov 26. doi: 10.1038/emboj.2009.350

PMCID:: PMC2824459

Abstract Article PDF–1.4M

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