P. Bomont, L. Cavalier, F. Blondeau, B. Hamida, C. Belal et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy, Nat Genet, vol.26, pp.370-374, 2000.

A. Asbury, M. Gale, S. Cox, J. Baringer, and B. Berg, Giant axonal neuropathy ? A unique case with segmental neurofilamentous masses, Acta Neuropathologica, vol.2, issue.3, pp.237-247, 1972.
DOI : 10.1007/BF00686905

B. Berg, S. Rosenberg, and A. Asbury, Giant Axonal Neuropathy, Pediatrics, vol.49, pp.894-899, 1972.
DOI : 10.1016/B978-0-409-90018-7.50029-3

H. Azzedine, N. Ravise, C. Verny, A. Gabreels-festen, M. Lammens et al., Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations, Neurology, vol.67, issue.4, pp.602-606, 2006.
DOI : 10.1212/01.wnl.0000230225.19797.93

G. Lus, E. Nelis, A. Jordanova, A. Lofgren, T. Cavallaro et al., Charcot-Marie-Tooth disease with giant axons: A clinicopathological and genetic entity, Neurology, vol.61, issue.7, pp.988-990, 2003.
DOI : 10.1212/WNL.61.7.988

J. Prineas, R. Ouvrier, R. Wright, J. Walsh, and J. Mcleod, Giant Axonal Neuropathy???A Generalized Disorder of Cytoplasmic Microfilament Formation, Journal of Neuropathology & Experimental Neurology, vol.35, issue.4, pp.458-470, 1976.
DOI : 10.1097/00005072-197607000-00006

P. Bomont and M. Koenig, Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization, Human Molecular Genetics, vol.12, issue.8, pp.813-822, 2003.
DOI : 10.1093/hmg/ddg092

D. Cleveland, K. Yamanaka, and P. Bomont, Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway, Human Molecular Genetics, vol.18, issue.8, pp.1384-1394, 2009.
DOI : 10.1093/hmg/ddp044

F. Dequen, P. Bomont, G. Gowing, D. Cleveland, and J. Julien, Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1, Journal of Neurochemistry, vol.64, issue.1, pp.253-264, 2008.
DOI : 10.1111/j.1471-4159.2008.05601.x

T. Ganay, A. Boizot, R. Burrer, J. Chauvin, and P. Bomont, Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice, Molecular Neurodegeneration, vol.6, issue.1, p.25, 2011.
DOI : 10.1006/exnr.1999.7102
URL : https://hal.archives-ouvertes.fr/inserm-00593292

M. Furukawa, Y. He, C. Borchers, and Y. Xiong, Targeting of protein ubiquitination by BTB???Cullin 3???Roc1 ubiquitin ligases, Nature Cell Biology, vol.5, issue.11, pp.1001-1007, 2003.
DOI : 10.1038/ncb1056

L. Pintard, J. Willis, A. Willems, J. Johnson, M. Srayko et al., The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase, Nature, vol.425, issue.6955, pp.311-316, 2003.
DOI : 10.1038/nature01959

L. Xu, Y. Wei, J. Reboul, P. Vaglio, T. Shin et al., BTB proteins are substrate-specific adaptors in an SCF-like modular ubiquitin ligase containing CUL-3, Nature, vol.425, issue.6955, pp.316-321, 2003.
DOI : 10.1038/nature01985

S. Mahammad, S. Murthy, A. Didonna, B. Grin, E. Israeli et al., Giant axonal neuropathy???associated gigaxonin mutations impair intermediate filament protein degradation, Journal of Clinical Investigation, vol.123, issue.5, pp.1964-1975, 2013.
DOI : 10.1172/JCI66387DS1

P. Bomont, C. Ioos, C. Yalcinkaya, R. Korinthenberg, J. Vallat et al., Identification of seven novel mutations in theGAN gene, Human Mutation, vol.21, issue.4, p.446, 2003.
DOI : 10.1002/humu.9122

K. Buysse, S. Vergult, S. Mussche, C. Ceuterick-de-groote, F. Speleman et al., Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene, American Journal of Medical Genetics Part A, vol.64, issue.11, pp.2802-2804, 2010.
DOI : 10.1002/ajmg.a.33508

M. Zhuang, M. Calabrese, J. Liu, M. Waddell, A. Nourse et al., Structures of SPOP-Substrate Complexes: Insights into Molecular Architectures of BTB-Cul3 Ubiquitin Ligases, Molecular Cell, vol.36, issue.1, pp.39-50, 2009.
DOI : 10.1016/j.molcel.2009.09.022

P. Canning, C. Cooper, T. Krojer, J. Murray, A. Pike et al., Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases, Journal of Biological Chemistry, vol.288, issue.11, pp.7803-7814, 2013.
DOI : 10.1074/jbc.M112.437996

W. Errington, M. Khan, S. Bueler, J. Rubinstein, A. Chakrabartty et al., Adaptor Protein Self-Assembly Drives the Control of a Cullin-RING Ubiquitin Ligase, Structure, vol.20, issue.7, pp.1141-1153, 2012.
DOI : 10.1016/j.str.2012.04.009

S. Lo, X. Li, M. Henzl, L. Beamer, and M. Hannink, Structure of the Keap1:Nrf2 interface provides mechanistic insight into Nrf2 signaling, The EMBO Journal, vol.591, issue.15, pp.3605-3617, 2006.
DOI : 10.1074/jbc.M206530200

B. Padmanabhan, K. Tong, T. Ohta, Y. Nakamura, M. Scharlock et al., Structural Basis for Defects of Keap1 Activity Provoked by Its Point Mutations in Lung Cancer, Molecular Cell, vol.21, issue.5, pp.689-700, 2006.
DOI : 10.1016/j.molcel.2006.01.013

L. Roth, B. Johnson-kerner, J. Marra, N. Lamarca, and D. Sproule, The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy, Neuromuscular Disorders, vol.24, issue.1, pp.48-55, 2014.
DOI : 10.1016/j.nmd.2013.06.007

K. Tong, B. Padmanabhan, A. Kobayashi, C. Shang, Y. Hirotsu et al., Different Electrostatic Potentials Define ETGE and DLG Motifs as Hinge and Latch in Oxidative Stress Response, Molecular and Cellular Biology, vol.27, issue.21, pp.7511-7521, 2007.
DOI : 10.1128/MCB.00753-07

E. Demir, P. Bomont, S. Erdem, L. Cavalier, M. Demirci et al., Giant axonal neuropathy: clinical and genetic study in six cases, Journal of Neurology, Neurosurgery & Psychiatry, vol.76, issue.6, pp.825-832, 2005.
DOI : 10.1136/jnnp.2003.035162
URL : https://hal.archives-ouvertes.fr/hal-00187506

B. Hamida, M. Hentati, F. , B. Hamida, and C. , Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred, Neurology, vol.40, issue.2, pp.245-250, 1990.
DOI : 10.1212/WNL.40.2.245

R. Zemmouri, H. Azzedine, S. Assami, N. Kitouni, J. Vallat et al., Charcot???Marie???Tooth 2-like presentation of an Algerian family with giant axonal neuropathy, Neuromuscular Disorders, vol.10, issue.8, pp.592-598, 2000.
DOI : 10.1016/S0960-8966(00)00141-3

M. Petroski and R. Deshaies, Function and regulation of cullin???RING ubiquitin ligases, Nature Reviews Molecular Cell Biology, vol.2, issue.1, pp.9-20, 2005.
DOI : 10.1101/gad.1255304