Associated Papers
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: 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
E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.
Lescouzères L et al.
Frontiers in Physiology, 2020
33192535 (PubMed )
Supplement: Table_1.pdf
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
Giant axonal disease: Report of eight cases.
Incecik F et al.
Brain & Development, 2015
Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
Akagi M et al.
Brain & Development, 2012
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Cleveland DW et al.
Human Molecular Genetics, 2009
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Houlden H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2007
Giant axonal neuropathy.
Yang Y et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.
Wang W et al.
Current Biology : Cb, 2005
Giant axonal neuropathy: clinical and genetic study in six cases.
Demir E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin.
Ding J et al.
The Journal of Cell Biology, 2002
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
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