The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy-Reference-Cited by-同舟云学术

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Published:2000-11 Issue:3 Volume:26 Page:370-374
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Bomont Pascale,Cavalier Laurent,Blondeau François,Hamida Christiane Ben,Belal Samir,Tazir Meriem,Demir Ercan,Topaloglu Haluk,Korinthenberg Rudolf,Tüysüz Beyhan,Landrieu Pierre,Hentati Fayçal,Koenig Michel

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1100_370.pdf

Reference29 articles.

1. Rouleau, G.A. et al. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann. Neurol. 39, 128–131 (1996).

2. Xu, Z., Cork, L.C., Griffin, J.W. & Cleveland, D.W. Involvement of neurofilaments in motor neuron disease. J. Cell Sci. Suppl. 17, 101–108 (1993).

3. Lupski, J.R. Axonal charcot-marie-tooth disease and the neurofilament light gene (NF-L) . Am. J. Hum. Genet. 67, 8– 10 (2000).

4. Mersiyanova, I.V. et al. A new variant of charcot-marie-tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 67, 37–46 ( 2000).

5. Asbury, A.K., Gale, M.K., Cox, S.C., Baringer, J.R. & Berg, B.O. Giant axonal neuropathy: a unique case with segmental neurofilamentous masses. Acta Neuropathol. 20, 237–247 (1972).

Cited by 357 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteins;2024-09-05

2. KLHL20 and its role in cell homeostasis: A new perspective and therapeutic potential;Life Sciences;2024-09

3. Ubiquitin system mutations in neurological diseases;Trends in Biochemical Sciences;2024-07

4. Intrathecal gene therapy for neurologic disease in humans;Molecular Therapy;2024-05

5. Molecular mechanisms and therapeutic strategies for neuromuscular diseases;Cellular and Molecular Life Sciences;2024-04-28