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Lisa A. Roth et al.
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Clinical and Genetic Studies in a Chinese Family With Giant Axonal Neuropathy
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Dysfunctions of neuronal and glial intermediate filaments in disease
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Phenotypic variability in giant axonal neuropathy
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Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India
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New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
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Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
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Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients
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Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport
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Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway
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CURRENT BIOLOGY (2005)
Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival
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Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway
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JOURNAL OF NEUROBIOLOGY (2004)
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization
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HUMAN MOLECULAR GENETICS (2003)
Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases
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NATURE CELL BIOLOGY (2003)
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1
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Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin
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JOURNAL OF CELL BIOLOGY (2002)
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
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NATURE GENETICS (2000)
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