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Can I read AUTS2 Syndrome: Molecular Mechanisms and Model Systems on EtoBox?

AUTS2 Syndrome: Molecular Mechanisms and Model Systems by Biel, Alecia (author);Castanza, Anthony S. (author);Rutherford, Ryan (author);Fair, Summer R. (author);Chifamba, Lincoln (author);Wester, Jason C. (author);Hester, Mark E. (author);Hevner, Robert F. (author) is a Neuroscience article available to read on EtoBox.

What is AUTS2 Syndrome: Molecular Mechanisms and Model Systems about?

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 latter produced from an alternative transcription start site in exon 9. Structurally, AUTS2 contains the putative “AUTS2 domain” (∼200 aa) conserved among AUTS2 and its ohnologs, fibrosin, and fibrosin-like-1. Also, AUTS2 contains extensive low-complexity sequences and intrinsically disordered regions, features typical of RNA-binding proteins. During development, __AUTS2__ is expressed by specific progenitor cell and neuron types, including pyramidal neurons and Purkinje cells. AUTS2 localizes mainly in cell nuclei, where it regulates transcription and RNA metabolism. Some studies have detected AUTS2 in neurites, where it may regulate cytoskeletal dynamics. Neurodevelopmental functions of AUTS2 have been studied in diverse model systems. In zebrafish, __auts2a__ morphants displayed microcephaly. In mice, excision of different __Auts2__ exons (7, 8, or 15) caused distinct phenotypes, va

Who reads AUTS2 Syndrome: Molecular Mechanisms and Model Systems?

It is typically read by researchers, students, and practitioners in Neuroscience.

Author
Biel, Alecia (author);Castanza, Anthony S. (author);Rutherford, Ryan (author);Fair, Summer R. (author);Chifamba, Lincoln (author);Wester, Jason C. (author);Hester, Mark E. (author);Hevner, Robert F. (author)
Publisher
Frontiers Media SA
Published
2022
Language
EN
Field
Neuroscience (Life Sciences)

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