相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1
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JOURNAL OF NEUROCHEMISTRY (2008)
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
Henry Houlden et al.
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Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
Olga Koop et al.
NEUROMUSCULAR DISORDERS (2007)
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients
Conrad L. Leung et al.
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Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation
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BRAIN (2007)
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
H. Azzedine et al.
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Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport
JQ Ding et al.
HUMAN MOLECULAR GENETICS (2006)
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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NATURE (2005)
Protein quality control: chaperones culling corrupt conformations
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Giant axonal neuropathy: clinical and genetic study in six cases
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Identification of a novel tubulin-destabilizing protein related to the chaperone cofactor E
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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
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NEUROLOGY (2004)
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NEUROREPORT (2004)
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JOURNAL OF NEUROBIOLOGY (2004)
Charcot-Marie-Tooth disease with giant axons -: A clinicopathological and genetic entity
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The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase
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BTB proteins are substrate-specific adaptors in an SCF-like modular ubiquitin ligase containing CUL-3
L Xu et al.
NATURE (2003)
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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JOURNAL OF CELL BIOLOGY (2002)
Giant axonal neuropathy (GAN):: Case report and two novel mutations in the gigaxonin gene
G Kuhlenbäumer et al.
NEUROLOGY (2002)
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
P Bomont et al.
NATURE GENETICS (2000)
ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin
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JOURNAL OF CELL BIOLOGY (2000)
Tubulin folding cofactor D is a microtubule destabilizing protein
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