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Gigaxonin is required for intermediate filament transport

The FASEB journal, 2023-05, Vol.37 (5), p.e22886-n/a

2023

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A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization

The Journal of neuroscience, 2023-05, Vol.43 (22), p.4174-4189

2023

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Axonal Transport Defect in Gigaxonin Deficiency Rescued by Tubastatin A

Neurotherapeutics, 2023-07, Vol.20 (4), p.1215-1228

2023

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Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis

Muscle & nerve, 2014-10, Vol.50 (4), p.467-476

2014

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Degradation of the Intermediate Filament Family by Gigaxonin

Methods in enzymology, 2016-01, Vol.569, p.215

Bomont, Pascale

2016

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Methods for Determining the Cellular Functions of Vimentin Intermediate Filaments

Methods in enzymology, 2016-01, Vol.568, p.389

2016

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p16 Protein and Gigaxonin Are Associated with the Ubiquitination of NFκB in Cisplatin-induced Senescence of Cancer Cells

The Journal of biological chemistry, 2014-12, Vol.289 (50), p.34921-34937

2014

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Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease

Ophthalmic genetics, 2021-10, Vol.42 (5), p.600-603

2021

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Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.27-27, Article 27

2019

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Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2159-n/a

2023

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A mild case of giant axonal neuropathy without central nervous system manifestation

Brain & development (Tokyo. 1979), 2016-03, Vol.38 (3), p.350-353

2016

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Giant axonal neuropathy

Handbook of Clinical Neurology, 2013, Vol.115, p.933-938

2013

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Giant Axonal Neuropathy Caused by a Novel Compound Heterozygous Mutation in the Gigaxonin Gene

Journal of child neurology, 2013-10, Vol.28 (10), p.1316-1319

2013

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The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy

Neuromuscular disorders : NMD, 2014-01, Vol.24 (1), p.48-55

2014

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Heterogeneity of axonal pathology in chinese patients with giant axonal neuropathy

Muscle & nerve, 2014-08, Vol.50 (2), p.200-205

2014

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Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease

Clinical autonomic research, 2016-08, Vol.26 (4), p.307-313

2016

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Nature genetics, 2000-11, Vol.26 (3), p.370-374

2000

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Giant axonal neuropathy

Cellular and molecular life sciences : CMLS, 2007-03, Vol.64 (5), p.601-609

2007

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The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Acta neuropathologica communications, 2014-04, Vol.2 (1), p.47-47, Article 47

2014

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A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

European journal of paediatric neurology, 2013-05, Vol.17 (3), p.259-264

2013

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Phenotypic variability in giant axonal neuropathy

Neuromuscular disorders : NMD, 2009-04, Vol.19 (4), p.270-274

2009

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Gigaxonin mutation analysis in patients with NIFID

Neurobiology of aging, 2011-08, Vol.32 (8), p.1528-1529

2011

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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, 2010-11, Vol.152A (11), p.2802-2804

2010

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Microtubule-Associated Protein 1B: A Neuronal Binding Partner for Gigaxonin

The Journal of cell biology, 2002-08, Vol.158 (3), p.427-433

2002

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Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN)

Neuromuscular disorders : NMD, 2007-08, Vol.17 (8), p.624-630

2007

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Gigaxonin is required for intermediate filament transport

A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization

Axonal Transport Defect in Gigaxonin Deficiency Rescued by Tubastatin A

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis

Degradation of the Intermediate Filament Family by Gigaxonin

Methods for Determining the Cellular Functions of Vimentin Intermediate Filaments

p16 Protein and Gigaxonin Are Associated with the Ubiquitination of NFκB in Cisplatin-induced Senescence of Cancer Cells

Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease

Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

A mild case of giant axonal neuropathy without central nervous system manifestation

Giant axonal neuropathy

Giant Axonal Neuropathy Caused by a Novel Compound Heterozygous Mutation in the Gigaxonin Gene

The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy

Heterogeneity of axonal pathology in chinese patients with giant axonal neuropathy

Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Giant axonal neuropathy

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

Phenotypic variability in giant axonal neuropathy

Gigaxonin mutation analysis in patients with NIFID

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Microtubule-Associated Protein 1B: A Neuronal Binding Partner for Gigaxonin

Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN)

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