AUTS2 Syndrome: Molecular Mechanisms and Model Systems

AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3’ regions (exons 9-19) of the AUTS2 gene. Human AUTS2 protein has two major isoforms, full-length (1259 aa) and C-terminal (711 aa), the la...

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Detalles Bibliográficos
Autores principales: Biel, Alecia, Castanza, Anthony S., Rutherford, Ryan, Fair, Summer R., Chifamba, Lincoln, Wester, Jason C., Hester, Mark E., Hevner, Robert F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008325/
https://www.ncbi.nlm.nih.gov/pubmed/35431798
http://dx.doi.org/10.3389/fnmol.2022.858582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008325/
https://www.ncbi.nlm.nih.gov/pubmed/35431798
http://dx.doi.org/10.3389/fnmol.2022.858582

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