A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever-Reference-Cited by-同舟云学术

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A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever

Published:2015-10-21 Issue:6 Volume:24 Page:852-856
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Van Poucke Mario,Martlé Valentine,Van Brantegem Leen,Ducatelle Richard,Van Ham Luc,Bhatti Sofie,Peelman Luc J

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/ejhg2015223.pdf

Reference31 articles.

1. Hol EM, Pekny M : Glial fibrillary acidic protein (GFAP) and the astrocyte intermediate filament system in diseases of the central nervous system. Curr Opin Cell Biol 2015; 32: 121–130.

2. Sawaishi Y : Review of Alexander disease: beyond the classical concept of leukodystrophy. Brain Dev 2009; 31: 493–498.

3. Kamphuis W, Middeldorp J, Kooijman L et al: Glial fibrillary acidic protein isoform expression in plaque related astrogliosis in Alzheimer's disease. Neurobiol Aging 2014; 35: 492–510.

4. Alexander WS : Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 1949; 72: 373–381.

5. Brenner M, Goldman JE, Quinlan RA, Messing A : Alexander disease: a genetic disorder of astrocytes; in Parpura V, Haydon PG (eds): Astrocytes in (Patho)Physiology of the Nervous System. Springer: New York, NY, USA, 2009, pp 591–648.

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