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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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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Degradation of the Intermediate Filament Family by Gigaxonin

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

Bomont, Pascale

2016

Volltextzugriff (PDF)

Methods for Determining the Cellular Functions of Vimentin Intermediate Filaments

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

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Giant axonal neuropathy

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

2013

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

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 dazzling rise of neurofilaments: Physiological functions and roles as biomarkers

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

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

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

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