Article

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

2019-11-21

Abstract excerpt

Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein in the central nervous system. Here we describe exonic variants identified in three unrelated families...

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Literature Corpus work: 6ea59fd8-a5b6-58d6-88eb-7c52ca2508ee
DOI: 10.1101/842229

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