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Items: 1 to 20 of 101

1.

Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.

Mahammad S, Murthy SN, Didonna A, Grin B, Israeli E, Perrot R, Bomont P, Julien JP, Kuczmarski E, Opal P, Goldman RD.

J Clin Invest. 2013 May;123(5):1964-75. doi: 10.1172/JCI66387. Epub 2013 Apr 15.

2.

Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy.

Mussche S, Devreese B, Nagabhushan Kalburgi S, Bachaboina L, Fox JC, Shih HJ, Van Coster R, Samulski RJ, Gray SJ.

Hum Gene Ther. 2013 Feb;24(2):209-19. doi: 10.1089/hum.2012.107.

PMID:
23316953
3.

Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.

Lowery J, Jain N, Kuczmarski ER, Mahammad S, Goldman A, Gelfand VI, Opal P, Goldman RD.

Mol Biol Cell. 2016 Feb 15;27(4):608-16. doi: 10.1091/mbc.E15-09-0627. Epub 2015 Dec 23.

4.

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.

Johnson-Kerner BL, Ahmad FS, Diaz AG, Greene JP, Gray SJ, Samulski RJ, Chung WK, Van Coster R, Maertens P, Noggle SA, Henderson CE, Wichterle H.

Hum Mol Genet. 2015 Mar 1;24(5):1420-31. doi: 10.1093/hmg/ddu556. Epub 2014 Nov 4.

5.

A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.

Kang JJ, Liu IY, Wang MB, Srivatsan ES.

Hum Genet. 2016 Jul;135(7):675-84. doi: 10.1007/s00439-016-1659-5. Epub 2016 Mar 29. Review.

PMID:
27023907
6.

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.

Israeli E, Dryanovski DI, Schumacker PT, Chandel NS, Singer JD, Julien JP, Goldman RD, Opal P.

Hum Mol Genet. 2016 Jun 1;25(11):2143-2157. Epub 2016 Mar 21.

7.

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

Johnson-Kerner BL, Garcia Diaz A, Ekins S, Wichterle H.

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

8.

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

Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H, Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P.

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

9.

The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.

Lin NH, Huang YS, Opal P, Goldman RD, Messing A, Perng MD.

Mol Biol Cell. 2016 Dec 15;27(25):3980-3990. Epub 2016 Oct 26.

10.

Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.

Cleveland DW, Yamanaka K, Bomont P.

Hum Mol Genet. 2009 Apr 15;18(8):1384-94. doi: 10.1093/hmg/ddp044. Epub 2009 Jan 24.

11.

Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.

Dequen F, Bomont P, Gowing G, Cleveland DW, Julien JP.

J Neurochem. 2008 Oct;107(1):253-64. doi: 10.1111/j.1471-4159.2008.05601.x. Epub 2008 Jul 31.

12.

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M.

Nat Genet. 2000 Nov;26(3):370-4.

PMID:
11062483
14.

Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.

Wang W, Ding J, Allen E, Zhu P, Zhang L, Vogel H, Yang Y.

Curr Biol. 2005 Nov 22;15(22):2050-5.

16.

Explaining intermediate filament accumulation in giant axonal neuropathy.

Opal P, Goldman RD.

Rare Dis. 2013 Jun 17;1:e25378. doi: 10.4161/rdis.25378. eCollection 2013.

17.

Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.

Allen E, Ding J, Wang W, Pramanik S, Chou J, Yau V, Yang Y.

Nature. 2005 Nov 10;438(7065):224-8. Epub 2005 Oct 16.

PMID:
16227972
18.

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.

Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM.

Muscle Nerve. 2014 Oct;50(4):467-76. doi: 10.1002/mus.24321. Review.

PMID:
24947478
19.

Degradation of the Intermediate Filament Family by Gigaxonin.

Bomont P.

Methods Enzymol. 2016;569:215-31. doi: 10.1016/bs.mie.2015.07.009. Epub 2015 Aug 24. Review.

PMID:
26778561
20.

Giant axonal neuropathy.

Hentati F, Hentati E, Amouri R.

Handb Clin Neurol. 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. Review.

PMID:
23931822

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