Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform-Reference-Cited by-同舟云学术

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

Published:2020-03-11 Issue:6 Volume:41 Page:1131-1137
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Helman Guy¹²^ORCID,Takanohashi Asako³,Hagemann Tracy L.⁴,Perng Ming D.⁵,Walkiewicz Marzena¹,Woidill Sarah³,Sase Sunetra³,Cross Zachary³,Du Yangzhu⁶,Zhao Ling⁶,Waldman Amy³,Haake Bret C.⁷,Fatemi Ali⁸,Brenner Michael⁹,Sherbini Omar³,Messing Albee⁴¹⁰,Vanderver Adeline³¹¹,Simons Cas¹²^ORCID

Affiliation:

1. Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville Melbourne Australia

2. Institute for Molecular Bioscience, The University of Queensland Brisbane Australia

3. Division of NeurologyChildren's Hospital of Philadelphia Philadelphia Pennsylvania

4. Waisman Center, University of Wisconsin‐Madison Madison Wisconsin

5. Institute of Molecular Medicine, College of Life Sciences, National Tsing Hua University Hsinchu Taiwan

6. Department of Pathology and Laboratory MedicineHuman Immunology Core, Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania

7. Regions Hospital Saint Paul Minnesota

8. Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University Baltimore Maryland

9. Department of NeurobiologyUniversity of Alabama at Birmingham Birmingham Alabama

10. Department of Comparative BiosciencesUniversity of Wisconsin‐Madison Madison Wisconsin

11. Department of NeurologyPerelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24008

Reference19 articles.

1. Identification and characterization of GFAPκ, a novel glial fibrillary acidic protein isoform

2. Defective Glial Maturation in Vanishing White Matter Disease

3. Splice site, frameshift, and chimericGFAPmutations in Alexander disease

4. Neuroimaging and clinical features in type II (late-onset) Alexander disease

5. Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease

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