Associated Papers
The Kelch 3 motif on gigaxonin mediates the interaction with NUDCD3 and regulates vimentin filament morphology.
Phillips CL et al.
European Journal of Cell Biology, 2025
Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations.
Bamaga AK et al.
Cureus, 2024
The CRL3gigaxonin ubiquitin ligase-USP15 pathway governs the destruction of neurofilament proteins.
Park HM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).
Battaglia R et al.
Biorxiv : the Preprint Server for Biology, 2023
Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.
Guo Y et al.
American Journal of Medical Genetics. Part A, 2022
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX et al.
Brain : a Journal of Neurology, 2021
Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.
Vafaee-Shahi M et al.
Current Journal of Neurology, 2020
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A et al.
Neurogenetics, 2020
E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.
Lescouzères L et al.
Frontiers in Physiology, 2020
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.
Johnson-Kerner BL et al.
Human Molecular Genetics, 2015
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Boizot A et al.
Acta Neuropathologica Communications, 2014
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.
Roth LA et al.
Neuromuscular Disorders : Nmd, 2014
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
Mahammad S et al.
The Journal of Clinical Investigation, 2013
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
Akagi M et al.
Brain & Development, 2012
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.
Buysse K et al.
American Journal of Medical Genetics. Part A, 2010
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.
Bomont P et al.
Human Molecular Genetics, 2003
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
Kuhlenbäumer G et al.
Neurology, 2002
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Bomont P et al.
Nature Genetics, 2000
Pili canaliculi as manifestation of giant axonal neuropathy.
Almeida HL et al.
Anais Brasileiros De Dermatologia, 0