PMC Links for Nucleotide (Select 1677539427) - 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 58648322.

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo

Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2

PMCID:: PMC5864832

Abstract Article PDF–4.5M

Select item 57696023.

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies

Jörn M. Völker, Mykola Dergai, Luciano A. Abriata, Yves Mingard, Daniel Ysselstein, Dimitri Krainc, Matteo Dal Peraro, Gabriele Fischer von Mollard, Dirk Fasshauer, Judith Koliwer, Michael Schwake

Dis Model Mech. 2017 Dec 1; 10(12): 1391–1398. doi: 10.1242/dmm.029132

PMCID:: PMC5769602

Abstract Article

Select item 56408044.

Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity

Roman Praschberger, Simon A. Lowe, Nancy T. Malintan, Carlo N.G. Giachello, Nian Patel, Henry Houlden, Dimitri M. Kullmann, Richard A. Baines, Maria M. Usowicz, Shyam S. Krishnakumar, James J.L. Hodge, James E. Rothman, James E.C. Jepson

Cell Rep. 2017 Oct 3; 21(1): 97–109. Published online 2017 Oct 3. doi: 10.1016/j.celrep.2017.09.004

PMCID:: PMC5640804

Abstract Article PDF–3.3M

Select item 21330025.

Localization, Dynamics, and Protein Interactions Reveal Distinct Roles for ER and Golgi SNAREs

Jesse C. Hay, Judith Klumperman, Viola Oorschot, Martin Steegmaier, Christin S. Kuo, Richard H. Scheller

J Cell Biol. 1998 Jun 29; 141(7): 1489–1502. doi: 10.1083/jcb.141.7.1489

Correction in:: J Cell Biol. 1998 Aug 10; 142(3): 885.

PMCID:: PMC2133002

Abstract Article PDF–2.1M

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