[HTML][HTML] Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene

XS Liu, H Wu, M Krzisch, X Wu, J Graef, J Muffat… - Cell, 2018 - cell.com
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males,
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …

Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies

KR Sabitha, AK Shetty, D Upadhya - Neuroscience & Biobehavioral …, 2021 - Elsevier
The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …

Psychiatry in a dish: stem cells and brain organoids modeling autism spectrum disorders

M Ilieva, ÅF Svenningsen, M Thorsen, TM Michel - Biological psychiatry, 2018 - Elsevier
Autism spectrum disorders are a group of pervasive neurodevelopmental conditions with
heterogeneous etiology, characterized by deficits in social cognition, communication, and …

The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling

Z Zhang, SG Marro, Y Zhang, KL Arendt… - Science translational …, 2018 - science.org
Fragile X syndrome (FXS) is an X chromosome–linked disease leading to severe intellectual
disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene …

Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome

B Ren, M Burkovetskaya, Y Jung, L Bergdolt, S Totusek… - Glia, 2023 - Wiley Online Library
Fragile X syndrome (FXS), the most prevalent heritable form of intellectual disability, is
caused by the transcriptional silencing of the FMR1 gene. While neuronal contribution to …

Forced cell cycle exit and modulation of GABAA, CREB, and GSK3β signaling promote functional maturation of induced pluripotent stem cell-derived neurons

V Telezhkin, C Schnell, P Yarova… - … of Physiology-Cell …, 2016 - journals.physiology.org
Although numerous protocols have been developed for differentiation of neurons from a
variety of pluripotent stem cells, most have concentrated on being able to specify effectively …

Patient-derived induced pluripotent stem cells (iPSCs) and cerebral organoids for drug screening and development in autism spectrum disorder: opportunities and …

C Villa, R Combi, D Conconi, M Lavitrano - Pharmaceutics, 2021 - mdpi.com
Autism spectrum disorder (ASD) represents a group of neurodevelopmental diseases
characterized by persistent deficits in social communication, interaction, and repetitive …

Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells

M Li, H Zhao, GE Ananiev, MT Musser, KH Ness… - Stem Cells, 2017 - academic.oup.com
Human patient-derived induced pluripotent stem cells (hiPSCs) provide unique
opportunities for disease modeling and drug development. However, adapting hiPSCs or …

Stem cell therapy in autism: recent insights

D Siniscalco, S Kannan… - Stem cells and …, 2018 - Taylor & Francis
Autism spectrum disorders (ASDs) are characterized by core domains: persistent deficits in
social communication and interaction; restricted, repetitive patterns of behavior, interests, or …

Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD

ML Hilal, E Rosina, G Pedini, L Restivo, C Bagni - Molecular Psychiatry, 2024 - nature.com
Abstract Autism Spectrum Disorder (ASD) is caused by genetic, epigenetic, and
environmental factors. Mutations in the human FMR1 gene, encoding the Fragile X …