Article

Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain

2013-10-04

Abstract excerpt

Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene. MeCP2 transcripts are alternatively spliced to generate two protein isoforms (MeCP2_e1 and MeCP2_e2) that differ at their N-termini. Whilst mRNAs for both forms are expressed ubiquitously, the one for MeCP2_e1 is more abundant than for MeCP2_e2 in the central nervous system. In transfected cells, both protein isoforms are nuclear a...

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Literature Corpus work: db3e5300-3472-508f-85fa-e0ba0db91a4f
DOI: 10.12688/f1000research.2-204.v1

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