GFAP and its role in Alexander disease

被引：149

作者：

Quinlan, Roy A. ^{[1
]}

Brenner, Michael

Goldman, James E.

Messing, Albee

机构：

[1] Univ Durham, Sch Biol & Biomed Sci, Durham DH1 3LE, England

[2] Univ Alabama Birmingham, Ctr Glial Biol Med, Evelyn F McKnight Brain Inst, Dept Neurobiol, Birmingham, AL 35294 USA

[3] Columbia Univ, Ctr Neurobiol & Behav, Dept Pathol, New York, NY 10032 USA

[4] Univ Wisconsin, Waisman Ctr, Dept Comparat Biosci, Madison, WI 53705 USA

来源：

EXPERIMENTAL CELL RESEARCH | 2007年 / 313卷 / 10期

基金：

美国国家卫生研究院;

关键词：

Alexander disease; inclusions; Rosenthal fiber; GFAP; delta GFAP; kappa GFAP; chaperone; alpha B-crystallin; HSP27; SAPK; Jnk; MLK;

D O I：

10.1016/j.yexcr.2007.04.004

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Here we review how GFAP mutations cause Alexander disease. The current data suggest that a combination of events cause the disease. These include: (i) the accumulation of GFAP and the formation of characteristic aggregates, called Rosenthal fibers, (ii) the sequestration of the protein chaperones alpha B-crystallin and HSP27 into Rosenthal fibers, and (iii) the activation of both Jnk and the stress response. These then set in motion events that lead to Alexander disease. We discuss parallels with other intermediate filament diseases and assess potential therapies as part of this review as well as emerging trends in disease diagnosis and other aspects concerning GFAP. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：2077 / 2087

页数：11

共 50 条

[31] A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
Suzuki, Y
Kanazawa, N
Takenaka, J
Okumura, A
Negoro, T
Tsujino, S
BRAIN & DEVELOPMENT, 2004, 26 (03) : 206 - 208
[32] Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene
Fu, Mu-Hui
Chang, Yung-Yee
Lin, Ni-Hsuan
Yang, Ai-Wen
Chang, Chiung-Chih
Liu, Jia-Shou
Peng, Cheng-Huei
Wu, Kay L. H.
Perng, Ming-Der
Lan, Min-Yu
MOVEMENT DISORDERS, 2020, 35 (09) : 1662 - 1667
[33] A novel GFAP mutation and disseminated white matter lesions:: Adult Alexander disease?
Brockmann, K
Meins, M
Taubert, A
Trappe, R
Grond, M
Hanefeld, F
EUROPEAN NEUROLOGY, 2003, 50 (02) : 100 - 105
[34] Suppression of GFAP toxicity by αB-crystallin in mouse models of Alexander disease
Hagemann, Tracy L.
Boelens, Wilbert C.
Wawrousek, Eric F.
Messing, Albee
HUMAN MOLECULAR GENETICS, 2009, 18 (07) : 1190 - 1199
[35] An autopsied case of adult-onset bulbospinal-form Alexander disease with a novel S393R mutation in the GFAP gene
Iwasaki, Yasushi
Saito, Yufuko
Mori, Keiko
Ito, Masumi
Mimuro, Maya
Aiba, Ikuko
Saito, Kozo
Mizuta, Ikuko
Yoshida, Tomokatsu
Nakagawa, Masanori
Yoshida, Mari
CLINICAL NEUROPATHOLOGY, 2015, 34 (04) : 207 - 214
[36] Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease
Bachetti, Tiziana
Di Zanni, Eleonora
Adamo, Annalisa
Rosamilia, Francesca
Sechi, M. Margherita
Solla, Paolo
Bozzo, Matteo
Ceccherini, Isabella
Sechi, GianPietro
FRONTIERS IN PHARMACOLOGY, 2021, 12
[37] GFAP in health and disease
Middeldorp, J.
Hol, E. M.
PROGRESS IN NEUROBIOLOGY, 2011, 93 (03) : 421 - 443
[38] A novel GFAP mutation in a type II (late-onset) Alexander disease patient
Anderson Rodrigues Brandão de Paiva
Fernando Freua
Leandro Tavares Lucato
Jacy Parmera
Denise Dória
Paulo Ribeiro Nóbrega
Thiago Rosa Olávio
Lúcia Inês Macedo-Souza
Fernando Kok
Journal of Neurology, 2016, 263 : 821 - 822
[39] GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease
Pinto e Vairo, Filippo
Bertsch, Nicole
Klee, Eric W.
Gavrilova, Ralitza H.
ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2018, 6 : 112
[40] Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments
Yang, Ai-Wen
Lin, Ni-Hsuan
Yeh, Ting-Hung
Snider, Natasha
Perng, Ming-Der
MOLECULAR BIOLOGY OF THE CELL, 2022, 33 (08)

← 1 2 3 4 5 →