Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens

Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens

Abstract Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO) mouse models mirror the IF dysregulation and widespread nervous system pathology...

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Bibliographic Details
Main Authors: Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha, Steven J. Gray
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Giant axonal neuropathy (GAN)
Intermediate filaments (IF)
GAN KO mouse model
Gigaxonin
Human GAN
Lens epithelium
Online Access:http://link.springer.com/article/10.1186/s13023-018-0957-5

Internet

http://link.springer.com/article/10.1186/s13023-018-0957-5

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