PMC Links for Gene (Select 8139) - PMC

Links from Gene

Items: 1 to 20 of 41

<< First< Prev

Page of 3

Select item 102372501.

Gigaxonin is required for intermediate filament transport

Bhuvanasundar Renganathan, James P. Zewe, Yuan Cheng, Jean‐Michel Paumier, Mark Kittisopikul, Karen M. Ridge, Puneet Opal, Vladimir I. Gelfand

FASEB J. 2023 May; 37(5): e22886. Published online 2023 Apr 12. doi: 10.1096/fj.202202119R

PMCID:: PMC10237250

Article PDF–5.0M

Select item 51127252.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Sharon Aharoni, Katy E. S. Barwick, Rachel Straussberg, Gaurav V. Harlalka, Yoram Nevo, Barry A. Chioza, Meriel M. McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H. Crosby

BMC Med Genet. 2016; 17: 82. Published online 2016 Nov 16. doi: 10.1186/s12881-016-0343-x

PMCID:: PMC5112725

Article PDF–1.0M

Select item 42349923.

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Alexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, Nancy L Kuntz, Cecile Halbert, Brigitte Chabrol, Henry Houlden, Tanya Stojkovic, Brenda A Schulman, Bernd Rautenstrauss, Pascale Bomont

Acta Neuropathol Commun. 2014; 2: 47. Published online 2014 Apr 24. doi: 10.1186/2051-5960-2-47

PMCID:: PMC4234992

Article PDF–1.9M

Select item 21175914.

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

Henry Houlden, Mike Groves, Zosia Miedzybrodzka, Helen Roper, Tracey Willis, John Winer, Gaynor Cole, Mary M Reilly

J Neurol Neurosurg Psychiatry. 2007 Nov; 78(11): 1267–1270. Published online 2007 Jun 19. doi: 10.1136/jnnp.2007.118968

PMCID:: PMC2117591

Article PDF–1.1M

Select item 18105595.

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients

Conrad L Leung, Yinghua Pang, Chang Shu, Dmitry Goryunov, Ronald KH Liem

BMC Genet. 2007; 8: 6. Published online 2007 Mar 1. doi: 10.1186/1471-2156-8-6

PMCID:: PMC1810559

Article PDF–941K

Select item 36357356.

Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation

Saleemulla Mahammad, S.N. Prasanna Murthy, Alessandro Didonna, Boris Grin, Eitan Israeli, Rodolphe Perrot, Pascale Bomont, Jean-Pierre Julien, Edward Kuczmarski, Puneet Opal, Robert D. Goldman

J Clin Invest. 2013 May 1; 123(5): 1964–1975. Published online 2013 Apr 15. doi: 10.1172/JCI66387

PMCID:: PMC3635735

Article PDF–5.4M

Select item 29875237.

Gigaxonin mutation analysis in patients with NIFID

Florence Dequen, Nigel J. Cairns, Eileen H. Bigio, Jean-Pierre Julien

Neurobiol Aging. Author manuscript; available in PMC 2011 Aug 1.

Published in final edited form as: Neurobiol Aging. 2011 Aug; 32(8): 1528–1529. Published online 2009 Sep 26. doi: 10.1016/j.neurobiolaging.2009.08.018

PMCID:: PMC2987523

Article PDF–55K

Select item 53854988.

HILI destabilizes microtubules by suppressing phosphorylation and Gigaxonin-mediated degradation of TBCB

Hao Tan, Hua Liao, Lianfang Zhao, Yilu Lu, Siyuan Jiang, Dachang Tao, Yunqiang Liu, Yongxin Ma

Sci Rep. 2017; 7: 46376. Published online 2017 Apr 10. doi: 10.1038/srep46376

PMCID:: PMC5385498

Article PDF–2.6M

Select item 21738289.

Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin

Jianqing Ding, Jia-Jia Liu, Anthony S. Kowal, Timothy Nardine, Priyanka Bhattacharya, Arthur Lee, Yanmin Yang

J Cell Biol. 2002 Aug 5; 158(3): 427–433. doi: 10.1083/jcb.200202055

Correction in:: J Cell Biol. 2003 Oct 13; 163(1): 189–190.

PMCID:: PMC2173828

Article PDF–1.4M

Select item 703087410.

Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment

Po-Han Chen, Jimin Hu, Jianli Wu, Duc T. Huynh, Timothy J. Smith, Samuel Pan, Brittany J. Bisnett, Alexander B. Smith, Annie Lu, Brett M. Condon, Jen-Tsan Chi, Michael Boyce

JCI Insight. 2020 Jan 16; 5(1): e127751. Published online 2020 Jan 16. doi: 10.1172/jci.insight.127751

PMCID:: PMC7030874

Article PDF–14M

Select item 637771111.

Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production

Aurora Scrivo, Patrice Codogno, Pascale Bomont

Nat Commun. 2019; 10: 780. Published online 2019 Feb 15. doi: 10.1038/s41467-019-08331-w

PMCID:: PMC6377711

Article PDF–8.1M

Select item 266414512.

Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway

Don W. Cleveland, Koji Yamanaka, Pascale Bomont

Hum Mol Genet. 2009 Apr 15; 18(8): 1384–1394. Published online 2009 Jan 24. doi: 10.1093/hmg/ddp044

PMCID:: PMC2664145

Article PDF–547K

Select item 687732813.

Sonic Hedgehog repression underlies gigaxonin mutation–induced motor deficits in giant axonal neuropathy

Yoan Arribat, Karolina S. Mysiak, Léa Lescouzères, Alexia Boizot, Maxime Ruiz, Mireille Rossel, Pascale Bomont

J Clin Invest. 2019 Dec 2; 129(12): 5312–5326. Published online 2019 Oct 28. doi: 10.1172/JCI129788

PMCID:: PMC6877328

Article PDF–9.4M

Select item 267506314.

Ectodermal-Neural Cortex 1 Down-Regulates Nrf2 at the Translational Level

Xiao-Jun Wang, Donna D. Zhang

PLoS One. 2009; 4(5): e5492. Published online 2009 May 8. doi: 10.1371/journal.pone.0005492

PMCID:: PMC2675063

Article PDF–592K

Select item 416883515.

Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci

Marylyn D. Ritchie, Shefali S. Verma, Molly A. Hall, Robert J. Goodloe, Richard L. Berg, Dave S. Carrell, Christopher S. Carlson, Lin Chen, David R. Crosslin, Joshua C. Denny, Gail Jarvik, Rongling Li, James G. Linneman, Jyoti Pathak, Peggy Peissig, Luke V. Rasmussen, Andrea H. Ramirez, Xiaoming Wang, Russell A. Wilke, Wendy A. Wolf, Eric S. Torstenson, Stephen D. Turner, Catherine A. McCarty

Mol Vis. 2014; 20: 1281–1295. Published online 2014 Sep 19.

PMCID:: PMC4168835

Article PDF–1.1M

Select item 426389016.

p16 Protein and Gigaxonin Are Associated with the Ubiquitination of NFκB in Cisplatin-induced Senescence of Cancer Cells

Mysore S. Veena, Reason Wilken, Jun-Ying Zheng, Ankur Gholkar, Natarajan Venkatesan, Darshni Vira, Sameer Ahmed, Saroj K. Basak, Clifton L. Dalgard, Sandhiya Ravichandran, Raj K. Batra, Noriyuki Kasahara, David Elashoff, Michael C. Fishbein, Julian P. Whitelegge, Jorge Z. Torres, Marilene B. Wang, Eri S. Srivatsan

J Biol Chem. 2014 Dec 12; 289(50): 34921–34937. Published online 2014 Oct 20. doi: 10.1074/jbc.M114.568543

PMCID:: PMC4263890

Article PDF–3.5M

Select item 282477517.

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

Zari Dastani, Päivi Pajukanta, Michel Marcil, Nicholas Rudzicz, Isabelle Ruel, Swneke D Bailey, Jenny C Lee, Mathieu Lemire, Janet Faith, Jill Platko, John Rioux, Thomas J Hudson, Daniel Gaudet, James C Engert, Jacques Genest

Eur J Hum Genet. 2010 Mar; 18(3): 342–347. Published online 2009 Oct 21. doi: 10.1038/ejhg.2009.157

PMCID:: PMC2824775

Article PDF–366K

Select item 365894618.

Update on the Kelch-like (KLHL) gene family

Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford, James S Friedman

Hum Genomics. 2013; 7(1): 13. Published online 2013 May 15. doi: 10.1186/1479-7364-7-13

PMCID:: PMC3658946

Article PDF–1.3M

Select item 460415519.

Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy

Bethany L. Johnson-Kerner, Alejandro Garcia Diaz, Sean Ekins, Hynek Wichterle

PLoS One. 2015; 10(10): e0140157. Published online 2015 Oct 13. doi: 10.1371/journal.pone.0140157

PMCID:: PMC4604155

Article PDF–2.9M

Select item 122409120.

14-3-3-affinity purification of over 200 human phosphoproteins reveals new links to regulation of cellular metabolism, proliferation and trafficking.

Mercedes Pozuelo Rubio, Kathryn M Geraghty, Barry H C Wong, Nicola T Wood, David G Campbell, Nick Morrice, Carol Mackintosh

Biochem J. 2004 Apr 15; 379(Pt 2): 395–408. doi: 10.1042/BJ20031797

PMCID:: PMC1224091

Summary PDF–323K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 41

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity