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lüll GFAP and its role in Alexander disease Quinlan RA; Brenner M; Goldman JE; Messing AExp Cell Res 2007[Jun]; 313 (10): 2077-87Here 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.|Alexander Disease/*genetics/*metabolism/physiopathology[MESH]|Animals[MESH]|Astrocytes/*metabolism/pathology[MESH]|Brain/metabolism/pathology/physiopathology[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Glial Fibrillary Acidic Protein/*genetics[MESH]|Humans[MESH]|Inclusion Bodies/genetics/metabolism/pathology[MESH]|Intermediate Filaments/genetics/*metabolism/pathology[MESH]|Molecular Chaperones/genetics/metabolism[MESH]|Mutation/genetics[MESH] |