PMC Links for GEO Profiles (Select 67222876) - PMC

Select item 64590591.

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

Shimon Edvardson, Guoling Tian, Hayley Cullen, Hannah Vanyai, Linh Ngo, Saiuj Bhat, Adi Aran, Muhannad Daana, Naderah Da’amseh, Bassam Abu-Libdeh, Nicholas J. Cowan, Julian Ik-Tsen Heng, Orly Elpeleg

Hum Mol Genet. 2016 Nov 1; 25(21): 4635–4648. Published online 2016 Aug 29. doi: 10.1093/hmg/ddw292

PMCID:: PMC6459059

Abstract Article PDF–1.5M

Select item 50656612.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe, George Imataka, Huey Yin Leong, Aviva Fattal-Valevski, Uri Kramer, Satoko Miyatake, Mitsuhiro Kato, Nobuhiko Okamoto, Yoshinori Sato, Satomi Mitsuhashi, Ichizo Nishino, Naofumi Kaneko, Akira Nishiyama, Tomohiko Tamura, Takeshi Mizuguchi, Mitsuko Nakashima, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

Am J Hum Genet. 2016 Oct 6; 99(4): 950–961. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.005

PMCID:: PMC5065661

Abstract Article PDF–3.6M

Select item 50656583.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Jr., Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, Marco Tartaglia

Am J Hum Genet. 2016 Oct 6; 99(4): 962–973. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.003

PMCID:: PMC5065658

Abstract Article PDF–2.1M

Select item 31780594.

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 29582305.

Effect of TBCD and its Regulatory Interactor Arl2 on Tubulin and Microtubule Integrity

Guoling Tian, Simi Thomas, Nicholas J. Cowan

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2010 Nov; 67(11): 706–714. doi: 10.1002/cm.20480

PMCID:: PMC2958230

Abstract Article PDF–912K

Select item 21748236.

Adp Ribosylation Factor-like Protein 2 (Arl2) Regulates the Interaction of Tubulin-Folding Cofactor D with Native Tubulin

Arunashree Bhamidipati, Sally A. Lewis, Nicholas J. Cowan

J Cell Biol. 2000 May 29; 149(5): 1087–1096. doi: 10.1083/jcb.149.5.1087

PMCID:: PMC2174823

Abstract Article PDF–400K

Select item 5402777.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

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