Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens-Reference-Cited by-同舟云学术

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

Published:2019-02-01 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Armao Diane,Bouldin Thomas W.,Bailey Rachel M.,Hooper Jody E.,Bharucha Diana X.,Gray Steven J.

Funder

Hannah's Hope Fund

National Institute of Neurological Disorders and Stroke

National Institute of Child Health and Human Development

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

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

Reference22 articles.

1. Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM. Giant axonal neuropathy: an updated perspective on its pathology and pathogenesis. Muscle Nerve. 2014;50(4):467–76.

2. Lin NH, Huang YS, Opal P, Goldman RD, Messing A, Perng MD. The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP. Mol Biol Cell. 2016;27(25):3980–90.

3. Soomro A, Alsop RJ, Negishi A, Kreplak DF, Kuczmarski ER, Goldman RD, Rheinstadter MC. Giant axonal neuropathy alters the structure of keratin intermediate fialments in human hair. JR Soc Interface. 2017;14:1–9.

4. Ding J, Allen E, Wang W, Valle A, Wu C, Nardine T, et al. Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport. Hum Mol Genet. 2006;15(9):1451–63.

5. Ganay T, Boizot A, Burrer R, Chauvin JP, Bomont P. Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice. Mol Neurodegener. 2011;6(1):25.

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