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. ,
Giant axonal neuropathy ? A unique case with segmental neurofilamentous masses, Acta Neuropathologica, vol.2, issue.3, pp.237-247, 1972. ,
DOI : 10.1007/BF00686905
Giant Axonal Neuropathy, Pediatrics, vol.49, pp.894-899, 1972. ,
DOI : 10.1016/B978-0-409-90018-7.50029-3
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
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
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
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
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
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
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
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
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
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
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
Identification of seven novel mutations in theGAN gene, Human Mutation, vol.21, issue.4, p.446, 2003. ,
DOI : 10.1002/humu.9122
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
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
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
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
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
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
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
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
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
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
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
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