Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

Journal article

It is suggested that more than 600 genes are associated with ASD. Given the high number of potential ASD-linked genes and that the disorder is a complex spectrum, categorization of the ASD-linked genetic alterations will be useful in the attempt to determine a pattern that can ultimately assist in developing genetic risk factor analysis for the disorder. This thesis aims to analyze the possible cellular and molecular mechanisms that are impacted by such ASD-linked gene alterations and how they may give rise to ASD behaviors. By making this connection, this thesis aims to shine a light on the plausible cellular mechanisms which give rise to ASD behaviors. Should a connection to genes involved in these mechanisms persist with more trials/evidence, it would set the stage for reformation of therapies and treatments for individuals on the spectrum, as early intervention services can be provided even earlier and thus patients may make more effective and more rapid progress if a genetic screening process is indeed developed

Authors: Amar, M; Pramod, AB; Yu, N-K; Herrera, VM; Qiu, LR

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer Nature [academic journals on nature.com]
• Journal: Molecular Psychiatry
• Volume: 26
• Issue: 7
• Pages: 3586-3613
• Publication date: 2021-03-16
• DOI: 10.1038/s41380-021-01052-x
• EISSN: 1476-5578
• ISSN: 1359-4184
• Language: English
• Keywords: Neurogenesis; Cytoskeleton; Phenotype; Neuroscience; RHOA; Mutant; Biology; Actin cytoskeleton; Cell biology; Signal transduction; Haploinsufficiency; Genetics; Gene