Group leader
Pascale BOMONT
pascale.bomont@inserm.fr
Tel +33 (0)4 99 63 60 73
Members
Scientists
Pascale BOMONT
Postdoctoral fellows
Prasanna Iyengar
PhD student
André Lopes
Master students
Marion PEYRESSATRE
Engineers
Alexia BOIZOT
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The Ubiquitin Proteasome System (UPS) is impaired in many neurodegenerative disorders and its role in neurodegeneration is the focus of intense scrutiny. However, solving its implication in neuronal death represents a considerable challenge and systems in which neurodegeneration is directly caused by mutations in component(s) of the UPS are very valuable models for this aim.
The identification of gigaxonin, the substrate adaptor of a Cul3-E3 ubiquitin ligase, as the defective protein in the fatal neurodegenerative disorder Giant Axonal Neuropathy (GAN), prompted us to choose this model as a direct way to study the role of the UPS in neurodegeneration. The broad degeneration of the nervous system together with the generalized disorganization of Intermediate Filaments in patients, point to a key role for gigaxonin in sustaining both neuronal survival and cytoskeleton architecture.
Our group is dedicated to deciphering the pathophysiology of GAN but also to developing a specific diagnostic test and the first therapeutic approaches for this fatal disease. We are studying the pathways of cell death and cytoskeleton dynamics in new neuronal models that are also used as readout tests to evaluate the efficacy of therapeutic vehicules generated by our collaborators. We are using multidisciplinary approaches encompassing human genetics, cell biology, biochemistry and animal models.
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Main publications:
Ganay T, Boizot A, Burrer R, Chauvin JP, and Bomont P. Sensory-motor deficits and Neurofilament disorganization in Gigaxonin-null mice. Mol Neurodegener.12;6:25. (2011)
Cleveland DW, Yamanaka K, Bomont P. (2009) Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway. Hum Mol Genet. 18(8):1384-94. (2009)
Bomont P, Koenig M. (2003). Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. Hum Mol Genet. 12(8):813-22. (2003)
Bomont P, Cavalier L, Blondeau F et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet. 26(3):370-4. (2000)
Full publication record:
http://www.ncbi.nlm.nih.gov/pubmed
/?term=bomont+p
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