PTEN in autism and neurodevelopmental disorders

S Rademacher, BJ Eickholt - Cold Spring …, 2019 - perspectivesinmedicine.cshlp.org
Phosphatase and tensin homolog (PTEN) is a classical tumor suppressor that antagonizes
phosphatidylinositol 3-phosphate kinase (PI3K)/AKT signaling. Although there is a strong …

Criss‐crossing autism spectrum disorder and adult neurogenesis

F Bicker, L Nardi, J Maier, V Vasic… - Journal of …, 2021 - Wiley Online Library
Autism spectrum disorder (ASD) comprises a group of multifactorial neurodevelopmental
disorders primarily characterized by deficits in social interaction and repetitive behavior …

Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders

AB Arnett, T Wang, EE Eichler, RA Bernier - Journal of …, 2021 - Springer
Abstract Background Neurodevelopmental disorders (NDDs), including autism spectrum
disorder (ASD) and intellectual disability (ID), are common diagnoses with highly …

A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder

SS Purushotham, NMN Reddy, MN D'Souza… - Experimental Brain …, 2022 - Springer
Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental
disorders that have become a primary clinical and social concern, with a prevalence of 2 …

APPlications of amyloid-β precursor protein metabolites in macrocephaly and autism spectrum disorder

DK Sokol, DK Lahiri - Frontiers in Molecular Neuroscience, 2023 - frontiersin.org
Metabolites of the Amyloid-β precursor protein (APP) proteolysis may underlie brain
overgrowth in Autism Spectrum Disorder (ASD). We have found elevated APP metabolites …

Rapamycin improves social and stereotypic behavior abnormalities induced by pre‐mitotic neuronal subset specific Pten deletion

DA Narvaiz, SO Nolan, GD Smith… - Genes, Brain and …, 2023 - Wiley Online Library
The mechanistic target of rapamycin (mTOR) pathway is a signaling system integral to
neural growth and migration. In both patients and rodent models, mutations to the …

Connecting genotype with behavioral phenotype in mouse models of autism associated with PTEN mutations

AE Clipperton-Allen, DT Page - Cold Spring …, 2020 - perspectivesinmedicine.cshlp.org
A subset of individuals with autism spectrum disorder (ASD) and macrocephaly carry
mutations in the gene PTEN. Animal models, particularly mice, have been helpful in …

Neuronal deletion of phosphatase and tensin homolog in mice results in spatial dysregulation of adult hippocampal neurogenesis

SE Latchney, BR Ruiz Lopez, PD Womble… - Frontiers in Molecular …, 2023 - frontiersin.org
Adult neurogenesis is a persistent phenomenon in mammals that occurs in select brain
structures in both healthy and diseased brains. The tumor suppressor gene, phosphatase …

Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome

H Zhao, G Lou, Y Shao, T Wang, H Wang… - Journal of Molecular …, 2024 - Springer
Down syndrome (DS) is the most example of aneuploidy, resulting from an additional copy
of all or part of chromosome 21. Competing endogenous RNAs (ceRNAs) play important …

The integral role of PTEN in brain function: from neurogenesis to synaptic plasticity and social behavior

N Chwin, A Kiryk - Acta Neurobiologiae Experimentalis, 2024 - ane.pl
The phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene is a critical
tumor suppressor that plays an essential role in the development and functionality of the …