A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
Author:
Funder
VA Merit
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-016-1659-5.pdf
Reference41 articles.
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2. Allen E, Ding J, Wang W, Pramanik S, Chou J, Yau V, Yang Y (2005) Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. Nature 438:224–228 (Epub 2005 Oct 16)
3. Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO (1972) Giant axonal neuropathy—a unique case with segmental neurofilamentous masses. Acta Neuropathol 20:237–247
4. Berg BO, Rosenberg SH, Asbury AK (1972) Giant axonal neuropathy. Pediatrics 49:894–899
5. Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H, Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P (2014) The instability of the BTB-KELCH protein gigaxonin causes giant axonal neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun 2:47. doi: 10.1186/2051-5960-2-47
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