Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein. We describe exonic variants identified in th...

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Bibliographic Details
Published in:Hum Mutat
Main Authors: Helman, Guy, Takanohashi, Asako, Hagemann, Tracy L., Perng, Ming D., Walkiewicz, Marzena, Woidill, Sarah, Sase, Sunetra, Cross, Zachary, Du, Yangzhu, Zhao, Ling, Waldman, Amy, Haake, Bret C., Fatemi, Ali, Brenner, Michael, Sherbini, Omar, Messing, Albee, Vanderver, Adeline, Simons, Cas
Format: Artigo
Language:Inglês
Published: 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7491703/
https://ncbi.nlm.nih.gov/pubmed/32126152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24008
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