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
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A et al.
Neurogenetics, 2020
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
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
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
Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.
Allen E et al.
Nature, 2005
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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