PMC Links for GEO Profiles (Select 49522599) - PMC

Select item 60755551.

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

Martin W. Breuss, Thai Nguyen, Anjana Srivatsan, Ines Leca, Guoling Tian, Tanja Fritz, Andi H. Hansen, Damir Musaev, Jennifer McEvoy-Venneri, Kiely N. James, Rasim O. Rosti, Eric Scott, Uner Tan, Richard D. Kolodner, Nicholas J. Cowan, David A. Keays, Joseph G. Gleeson

Hum Mol Genet. 2017 Jan 15; 26(2): 258–269. Published online 2016 Dec 23. doi: 10.1093/hmg/ddw383

PMCID:: PMC6075555

Abstract Article PDF–1.1M

Select item 58249582.

Identification and characterization of the BRI2 interactome in the brain

Filipa Martins, Ana M. Marafona, Cátia D. Pereira, Thorsten Müller, Christina Loosse, Katharina Kolbe, Odete A. B. da Cruz e Silva, Sandra Rebelo

Sci Rep. 2018; 8: 3548. Published online 2018 Feb 23. doi: 10.1038/s41598-018-21453-3

PMCID:: PMC5824958

Abstract Article PDF–1.7M

Select item 52900863.

A HETEROZYGOUS MUTATION IN TUBULIN, BETA 2B (TUBB2B) CAUSES COGNITIVE DEFICITS AND HIPPOCAMPAL DISORGANIZATION

Rolf W. Stottmann, Ashley Driver, Arnold Gutierrez, Matthew R. Skelton, Michael Muntifering, Christopher Stepien, Luke Knudson, Matthew Kofron, Charles V. Vorhees, Michael T. Williams

Genes Brain Behav. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Genes Brain Behav. 2017 Feb; 16(2): 250–259. Published online 2016 Oct 3. doi: 10.1111/gbb.12327

PMCID:: PMC5290086

Abstract Article PDF–1.2M

Select item 46463314.

Tubulin Tail Sequences and Post-translational Modifications Regulate Closure of Mitochondrial Voltage-dependent Anion Channel (VDAC)

Kely L. Sheldon, Philip A. Gurnev, Sergey M. Bezrukov, Dan L. Sackett

J Biol Chem. 2015 Oct 30; 290(44): 26784–26789. Published online 2015 Aug 25. doi: 10.1074/jbc.M115.678854

PMCID:: PMC4646331

Abstract Article PDF–742K

Select item 36286965.

Analysis of oxygen/glucose-deprivation-induced changes in SUMO3 conjugation using SILAC-based quantitative proteomics

Wei Yang, J. Will Thompson, Zhengfeng Wang, Liangli Wang, Huaxin Sheng, Matthew W. Foster, M. Arthur Moseley, Wulf Paschen

J Proteome Res. Author manuscript; available in PMC 2013 Apr 17.

Published in final edited form as: J Proteome Res. 2012 Feb 3; 11(2): 1108–1117. Published online 2011 Dec 1. doi: 10.1021/pr200834f

PMCID:: PMC3628696

Abstract Article PDF–1.3M

Select item 35161336.

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Gustav Y. Cederquist, Anna Luchniak, Max A. Tischfield, Maya Peeva, Yuyu Song, Manoj P. Menezes, Wai-Man Chan, Caroline Andrews, Sheena Chew, Robyn V. Jamieson, Lavier Gomes, Maree Flaherty, Patricia Ellen Grant, Mohan L. Gupta, Jr, Elizabeth C. Engle

Hum Mol Genet. 2012 Dec 15; 21(26): 5484–5499. Published online 2012 Sep 21. doi: 10.1093/hmg/dds393

PMCID:: PMC3516133

Abstract Article PDF–917K

Select item 31780597.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 31765418.

Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse

R. W. Stottmann, J. L. Moran, A. Turbe-Doan, E. Driver, M. Kelley, D. R. Beier

Genetics. 2011 Jul; 188(3): 615–624. doi: 10.1534/genetics.111.126862

PMCID:: PMC3176541

Abstract Article PDF–1.1M

Select item 28835849.

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier Hubert Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Nadia Bahi-Buisson, Catherine Fallet-Bianco, Françoise Phan-Dinh-Tuy, Xiang Peng Kong, Pascale Bomont, Laëtitia Castelnau-Ptakhine, Sylvie Odent, Philippe Loget, Manoelle Kossorotoff, Irina Snoeck, Ghislaine Plessis, Philippe Parent, Cherif Beldjord, Carlos Cardoso, Alfonso Represa, Jonathan Flint, David Anthony Keays, Nicholas Justin Cowan, Jamel Chelly

Nat Genet. Author manuscript; available in PMC 2010 Jun 11.

Published in final edited form as: Nat Genet. 2009 Jun; 41(6): 746–752. Published online 2009 May 24. doi: 10.1038/ng.380