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The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers

Current opinion in cell biology, 2021-02, Vol.68, p.181-191

Bomont, Pascale

2021

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E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy

Frontiers in physiology, 2020-10, Vol.11, p.1022-1022

2020

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The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy

Clinica chimica acta, 2020-03, Vol.502 (C), p.91-98

2020

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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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GAN (gigaxonin) E3 ligase and ATG16L1: master and commander of autophagosome production

Autophagy, 2019-09, Vol.15 (9), p.1650-1652

Bomont, Pascale

2019

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Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy

Molecular therapy. Methods & clinical development, 2018-06, Vol.9, p.160-171

2018

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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.215-231

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.389-426

2016

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Calpain-mediated proteolysis of vimentin filaments is augmented in giant axonal neuropathy fibroblasts exposed to hypotonic stress

Frontiers in cell and developmental biology, 2022-11, Vol.10, p.1008542-1008542

2022

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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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Genetic Approaches for the Treatment of Giant Axonal Neuropathy

Journal of personalized medicine, 2022-12, Vol.13 (1), p.91

2022

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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: Clinical, radiological, and genetic features

Annals of the Indian Academy of Neurology, 2018-10, Vol.21 (4), p.304-308

2018

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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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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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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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The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers

E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy

The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy

Gigaxonin is required for intermediate filament transport

GAN (gigaxonin) E3 ligase and ATG16L1: master and commander of autophagosome production

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy

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

Calpain-mediated proteolysis of vimentin filaments is augmented in giant axonal neuropathy fibroblasts exposed to hypotonic stress

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

Genetic Approaches for the Treatment of Giant Axonal Neuropathy

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: Clinical, radiological, and genetic features

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

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

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

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