PMC Links for GEO Profiles (Select 38556369) - PMC

Select item 50110451.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, The FREX Consortium, Antonio Miranda-Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau

Am J Hum Genet. 2016 Sep 1; 99(3): 695–703. Published online 2016 Aug 18. doi: 10.1016/j.ajhg.2016.06.030

PMCID:: PMC5011045

Abstract Article PDF–1.7M

Select item 47522352.

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

Ranhui Duan, Yuting Shi, Li Yu, Gehan Zhang, Jia Li, Yunting Lin, Jifeng Guo, Junling Wang, Lu Shen, Hong Jiang, Guanghui Wang, Beisha Tang

PLoS One. 2016; 11(2): e0149039. Published online 2016 Feb 12. doi: 10.1371/journal.pone.0149039

PMCID:: PMC4752235

Abstract Article PDF–1.4M

Select item 34967213.

Transcriptional Regulation of the Ufm1 Conjugation System in Response to Disturbance of the Endoplasmic Reticulum Homeostasis and Inhibition of Vesicle Trafficking

Yinghua Zhang, Mingsheng Zhang, Jianchun Wu, Guohua Lei, Honglin Li

PLoS One. 2012; 7(11): e48587. Published online 2012 Nov 13. doi: 10.1371/journal.pone.0048587

PMCID:: PMC3496721

Abstract Article PDF–963K

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 28207705.

A Novel Type of E3 Ligase for the Ufm1 Conjugation System

Kanako Tatsumi, Yu-shin Sou, Norihiro Tada, Eri Nakamura, Shun-ichiro Iemura, Tohru Natsume, Sung Hwan Kang, Chin Ha Chung, Masanori Kasahara, Eiki Kominami, Masayuki Yamamoto, Keiji Tanaka, Masaaki Komatsu

J Biol Chem. 2010 Feb 19; 285(8): 5417–5427. Published online 2009 Dec 14. doi: 10.1074/jbc.M109.036814

PMCID:: PMC2820770

Abstract Article PDF–3.5M

Select item 5289286.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 4043257.

A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier

Masaaki Komatsu, Tomoki Chiba, Kanako Tatsumi, Shun-ichiro Iemura, Isei Tanida, Noriko Okazaki, Takashi Ueno, Eiki Kominami, Tohru Natsume, Keiji Tanaka

EMBO J. 2004 May 5; 23(9): 1977–1986. Published online 2004 Apr 8. doi: 10.1038/sj.emboj.7600205

PMCID:: PMC404325

Abstract Article PDF–474K

Select item 1392418.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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