The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells-Reference-Cited by-同舟云学术

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The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells

Published:2007-02-22 Issue:4 Volume:52 Page:362-369
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yoshida Tomokatsu,Tomozawa Yasuko,Arisato Takayo,Okamoto Yuji,Hirano Hirofumi,Nakagawa Masanori

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200746.pdf

Reference33 articles.

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

2. Aoki Y, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y (2001) A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. Neurosci Lett 312:71–74

3. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (2001) Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27:277–286

4. Cary RB, Klymkowsky MW (1995) Disruption of intermediate filament organization leads to structural defects at the intersomite junction in Xenopus myotomal muscle. Development 121:1041–1052

5. Fuchs E (1996) The cytoskeleton and disease: genetic disorders of intermediate filaments. Ann Rev Genet 30:197–231

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2. Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease;Frontiers in Neurology;2024-03-20

3. Structural flexibility and heterogeneity of recombinant human glial fibrillary acidic protein (GFAP);Proteins: Structure, Function, and Bioinformatics;2023-12-27

4. Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report;BMC Pediatrics;2022-07-13

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