Bomont P - Search Results

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. Mahammad S, et al. Among authors: bomont p. J Clin Invest. 2013 May;123(5):1964-75. doi: 10.1172/JCI66387. Epub 2013 Apr 15. J Clin Invest. 2013. PMID: 23585478 Free PMC article.

2

A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN.

Lescouzères L, Hassen-Khodja C, Baudot A, Bordignon B, Bomont P. Lescouzères L, et al. Among authors: bomont p. EMBO Mol Med. 2023 Jul 10;15(7):e16267. doi: 10.15252/emmm.202216267. Epub 2023 May 5. EMBO Mol Med. 2023. PMID: 37144692 Free PMC article.

3

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. Dequen F, et al. Among authors: bomont p. J Neurochem. 2008 Oct;107(1):253-64. doi: 10.1111/j.1471-4159.2008.05601.x. Epub 2008 Jul 31. J Neurochem. 2008. PMID: 18680552 Free PMC article.

4

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

Arribat Y, Mysiak KS, Lescouzères L, Boizot A, Ruiz M, Rossel M, Bomont P. Arribat Y, et al. Among authors: bomont p. J Clin Invest. 2019 Dec 2;129(12):5312-5326. doi: 10.1172/JCI129788. J Clin Invest. 2019. PMID: 31503551 Free PMC article.

5

Neurofilaments: neurobiological foundations for biomarker applications.

Gafson AR, Barthélemy NR, Bomont P, Carare RO, Durham HD, Julien JP, Kuhle J, Leppert D, Nixon RA, Weller RO, Zetterberg H, Matthews PM. Gafson AR, et al. Among authors: bomont p. Brain. 2020 Jul 1;143(7):1975-1998. doi: 10.1093/brain/awaa098. Brain. 2020. PMID: 32408345 Free PMC article. Review.

6

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.

Bomont P, Koenig M. Bomont P, et al. Hum Mol Genet. 2003 Apr 15;12(8):813-22. doi: 10.1093/hmg/ddg092. Hum Mol Genet. 2003. PMID: 12668605

7

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

Cleveland DW, Yamanaka K, Bomont P. Cleveland DW, et al. Among authors: bomont p. Hum Mol Genet. 2009 Apr 15;18(8):1384-94. doi: 10.1093/hmg/ddp044. Epub 2009 Jan 24. Hum Mol Genet. 2009. PMID: 19168853 Free PMC article.

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. Boizot A, et al. Among authors: bomont p. Acta Neuropathol Commun. 2014 Apr 24;2:47. doi: 10.1186/2051-5960-2-47. Acta Neuropathol Commun. 2014. PMID: 24758703 Free PMC article.

9

Degradation of the Intermediate Filament Family by Gigaxonin.

Bomont P. Bomont P. Methods Enzymol. 2016;569:215-31. doi: 10.1016/bs.mie.2015.07.009. Epub 2015 Aug 24. Methods Enzymol. 2016. PMID: 26778561 Review.

10

Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production.

Scrivo A, Codogno P, Bomont P. Scrivo A, et al. Among authors: bomont p. Nat Commun. 2019 Feb 15;10(1):780. doi: 10.1038/s41467-019-08331-w. Nat Commun. 2019. PMID: 30770803 Free PMC article.

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