Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.

paper Cited Public

Authors: Hulbert, S W; Jiang, Y-H
Year: 2016
Journal: Neuroscience
PMID: 26733386
DOI: 10.1016/j.neuroscience.2015.12.040
PMCID: PMC4803542

#	Section	Preview
0	1. Genetic mutations implicated in ASDs	Substantial progress has been made to understand the genetic causes of ASDs. Genes implicated in…
1	1. Genetic mutations implicated in ASDs	other cases, mutations that likely disrupt protein function are found in genes that are implicated…
2	2. What constitutes a valid animal model for ASDs?	Animal models of psychiatric disorders have classically been evaluated on three criteria, which were…
3	2. What constitutes a valid animal model for ASDs?	Construct validity, for our purposes, refers to the rationale behind the creation of the model and…
4	2. What constitutes a valid animal model for ASDs?	Face validity refers to the model’s resemblance to the clinical features of the disorder, both in…
5	2. What constitutes a valid animal model for ASDs?	Finally, predictive validity refers to the model’s ability to determine the effectiveness that…
6	3. Overview of Monogenic Mouse Models of ASDs	By far the most common animals used to model ASDs are mice because of the well-established…
7	3. Overview of Monogenic Mouse Models of ASDs	Much of what we know about the underlying mechanism of ASDs comes from detailed analysis of mouse…
8	3. Overview of Monogenic Mouse Models of ASDs	should be noted that there are many models that we excluded, including inbred strains, chromosomal…
9	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	A number of genes classified as transcriptional or epigenetic regulators have been implicated in…
10	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	More than 10 distinct lines of Mecp2 mutant mice have been produced. Mice with the deletion of exon…
11	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	Cellular and molecular abnormalities have been identified in Mecp2 mutant mice that likely…
12	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	The electrophysiological consequences of MeCP2 dysfunction have also been examined. Reduced…
13	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	How the deficiency of MeCP2 results in abnormal functioning of neuronal synapses as well as ASD-like…
14	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	A number of research groups have manipulated the expression of MeCP2 in mouse brains temporally and…
15	3. Overview of Monogenic Mouse Models of ASDs — 3.1 Epigenetic and Transcriptional Regulator: Mecp2 (Rett syndrome)	can lead to ASD-like features. It remains unclear whether the deficiency of MeCP2 in these…
16	3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.1 Fmr1 (Fragile X syndrome)	Fragile X syndrome (FXS), primarily affecting males, also has phenotypic overlap with ASDs and is…
17	3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.1 Fmr1 (Fragile X syndrome)	of the human mutation by deleting exon 5 (The Dutch-Belgian Fragile X Consortium, 1994) or exon 1…
18	3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.1 Fmr1 (Fragile X syndrome)	Many studies have reported differences in dendritic spines in Fmr1 knockouts. The first study…
19	3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.1 Fmr1 (Fragile X syndrome)	In addition to dendritic spine morphology and stability, synaptic plasticity has been well…

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Dysbiosis of microbiome and probiotic treatment in a genetic model of autism spectrum disorders.	Tabouy L et al.	—	2018	→
Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder.	Hulbert SW et al.	—	2018	→
Genomics in neurodevelopmental disorders: an avenue to personalized medicine.	Tărlungeanu DC et al.	—	2018	→
Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways.	Nguyen RL et al.	—	2018	→
Modeling autism in non-human primates: Opportunities and challenges.	Zhao H et al.	—	2018	→
Shank3-deficient thalamocortical neurons show HCN channelopathy and alterations in intrinsic electrical properties.	Zhu M et al.	—	2018	→
Bridging Autism Spectrum Disorders and Schizophrenia through inflammation and biomarkers - pre-clinical and clinical investigations.	Prata J et al.	—	2017	→
Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the Brain.	Hulbert SW et al.	—	2017	→
Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.	Pappas AL et al.	—	2017	→
Do group I metabotropic glutamate receptors mediate LTD?	Jones OD	—	2017	→
Natural products as mediators of disease.	Garg N et al.	—	2017	→
PTEN: Local and Global Modulation of Neuronal Function in Health and Disease.	Knafo S et al.	—	2017	→
Translating genetic and preclinical findings into autism therapies.	Chahrour M et al.	—	2017	→
Whither the genotype-phenotype relationship? An historical and methodological appraisal.	Fisch GS	—	2017	→
Animal models of psychiatric disorders.	Gordon JA et al.	—	2016	→
Bioinformatic Analysis of DNA Methylation in Neural Progenitor Cell Models of Alcohol Abuse.	Oni EN et al.	—	2016	→
Lessons learned from studying syndromic autism spectrum disorders.	Sztainberg Y et al.	—	2016	→