AUTS2 Syndrome: Molecular Mechanisms and Model Systems

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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Bibliographic Details
Main Authors: Alecia Biel, Anthony S. Castanza, Ryan Rutherford, Summer R. Fair, Lincoln Chifamba, Jason C. Wester, Mark E. Hester, Robert F. Hevner
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Molecular Neuroscience
Subjects:
intellectual disability
microcephaly
RNA-binding protein
AUTS2 syndrome
FBRSL1
dentate gyrus hypoplasia
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.858582/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2022.858582/full

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