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Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease

Alexander disease (AxD) is an often fatal astrogliopathy caused by dominant gain-of-function missense mutations in the glial fibrillary acidic protein (GFAP) gene. The mechanism by which the mutations produce the AxD phenotype is not known. However, the observation that features of AxD are displayed...

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Bibliographische Detailangaben
Veröffentlicht in:J Biol Chem
Hauptverfasser: Heaven, Michael R., Wilson, Landon, Barnes, Stephen, Brenner, Michael
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6816090/
https://ncbi.nlm.nih.gov/pubmed/31484723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.009777
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