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. Author manuscript; available in PMC: 2024 Aug 27.
Published in final edited form as: Hum Mutat. 2022 Sep;43(9):1344. doi: 10.1002/humu.24400

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

Guy Helman, Asako Takanohashi, Tracy L Hagemann, Ming D Perng, Marzena Walkiewicz, Sarah Woidill, Sunetra Sase, Zachary Cross, Yangzhu Du, Ling Zhao, Amy Waldman, Bret C Haake, Ali Fatemi, Michael Brenner, Omar Sherbini, Albee Messing, Adeline Vanderver, Cas Simons
PMCID: PMC11348789  NIHMSID: NIHMS2014986  PMID: 35920398

In this article published in June 2020, the authors describe exonic variants identified in three unrelated families with Type II Alexander disease that alter the splicing of GFAP pre-messenger RNA (mRNA) and result in the upregulation of a previously uncharacterized GFAP lambda isoform (NM_001363846.1). The authors would like to acknowledge further support of this study by the Commonwealth of Pennsylvania, Department of Health, Formula Grant, SAP 4100077047.

The authors apologize for this omission.

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