Shaping human brain development and vulnerability through alternative splicing.

Cell Genom

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. Electronic address:

Published: June 2024

Alternative splicing contributes to shaping lineage-specific gene expression and phenotypes. In this issue of Cell Genomics, Recinos, Bao, Wang, et al. report that the balance between splicing isoforms of the microtubule-associated protein Tau in the brain is differentially regulated among primates by the RNA-binding protein MBNL2, with consequences for protein aggregation and neurodegeneration in humans.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11228946PMC
http://dx.doi.org/10.1016/j.xgen.2024.100584DOI Listing

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