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Pascale Bomont

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Don W Cleveland; Koji Yamanaka; Pascale Bomont
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Florence Dequen; Pascale Bomont; Geneviève Gowing; Don W Cleveland; Jean-Pierre Julien
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.
Pascale Bomont; Maddox Paul; Jagesh V Shah; Arshad Desai; Don W Cleveland
Unstable microtubule capture at kinetochores depleted of the centromere-associated protein CENP-F.

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All Publications

2009: Don W Cleveland; Koji Yamanaka; Pascale Bomont
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Human molecular genetics 2009;18(8):1384-94.
2008: Florence Dequen; Pascale Bomont; Geneviève Gowing; Don W Cleveland; Jean-Pierre 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 2008;107(1):253-64.
2005: Pascale Bomont; Maddox Paul; Jagesh V Shah; Arshad Desai; Don W Cleveland
Unstable microtubule capture at kinetochores depleted of the centromere-associated protein CENP-F.
The EMBO journal 2005;24(22):3927-39.
2005: Ercan Demir; Pascale Bomont; S Erdem; L Cavalier; Mehmet Demirci; Gulsen Kose; S Muftuoglu; A N Cakar; E Tan; Sabiha Aysun; Meral Topcu; P Guicheney; Michel Koenig; Haluk Topaloglu
Giant axonal neuropathy: clinical and genetic study in six cases.
Journal of neurology, neurosurgery, and psychiatry 2005;76(6):825-32.
2004: Maria-Céu Moreira; Sandra Klur; Mitsunori Watanabe; Andrea H Németh; Isabelle Le Ber; José-Carlos Moniz; Christine Tranchant; Patrick Aubourg; Meriem Tazir; Lüdger Schöls; Massimo Pandolfo; Jörg B Schulz; Jean Pouget; Patrick Calvas; Masami Shizuka-Ikeda; Mikio Shoji; Makoto Tanaka; Louise Izatt; Christopher Shaw; Abderrahim M'Zahem; Eimear Dunne; Pascale Bomont; Traki Benhassine; Naïma Bouslam; Giovanni Stevanin; Alexis Brice; João Guimarães; Pedro Mendonça; Clara Barbot; Paula Coutinho; Jorge Sequeiros; Alexandra Dürr; Jean-Marie Warter; Michel Koenig
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nature genetics 2004;36(3):225-7.
2003: Pascale Bomont; Michel Koenig
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.
Human molecular genetics 2003;12(8):813-22.
2003: Pascale Bomont; C Ioos; C Yalcinkaya; R Korinthenberg; Jean-Michel Vallat; S Assami; A Munnich; B Chabrol; G Kurlemann; Meriem Tazir; Michel Koenig
Identification of seven novel mutations in the GAN gene.
Human mutation 2003;21(4):446.
2002: Meriem Tazir; Jean-Michel Vallat; Pascale Bomont; R Zemmouri; Philippe Sindou; S Assami; S Nouioua; Tarik Hammadouche; Djamel Grid; Michel Koenig
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1.
Neuromuscular disorders : NMD 2002;12(9):849-52.
2000: Pascale Bomont; M Watanabe; R Gershoni-Barush; M Shizuka; M Tanaka; J Sugano; Christophe Guiraud-Chaumeil; Michel Koenig
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
European journal of human genetics : EJHG 2000;8(12):986-90.
2000: Pascale Bomont; L Cavalier; Francois Blondeau; Christiane Ben Hamida; Samir Belal; Meriem Tazir; Ercan Demir; Haluk Topaloglu; R Korinthenberg; B Tüysüz; P Landrieu; Faycal Hentati; Michel Koenig
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Nature genetics 2000;26(3):370-4.
2000: L Cavalier; C BenHamida; Rim Amouri; Samir Belal; Pascale Bomont; N Lagarde; L Gressin; D Callen; Ercan Demir; Haluk Topaloglu; P Landrieu; C Ioos; MB Hamida; Michel Koenig; Faycal Hentati
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
European journal of human genetics : EJHG 2000;8(7):527-34.