Article

Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndrome

2019-04-15

Abstract excerpt

Fragile X syndrome (FXS) is an incurable neurodevelopmental disorder with no effective treatment. FXS is caused by epigenetic silencing of FMR1 and loss of FMRP expression. To investigate the consequences of FMRP deficiency in the context of human physiology, we established isogenic FMR1 knockout ( FMR1 KO) human embryonic stem cells (hESCs). Integrative analysis of the transcriptomic and proteomic profiles of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d7dea14f-34a8-5530-89b5-3d6f08878a25
DOI: 10.1101/606038

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndromeDOI 10.1101/606038Read

Fragile X syndrome patient-derived neurons developing in the mouse brain show <i>FMR1</i> -dependent phenotypesSemantic proximity Read

Transcriptional dysregulation and impaired neuronal activity in <i>FMR1</i> knock-out and Fragile X patients’ iPSC-derived modelsSemantic proximity Read

Fragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes.Semantic proximity Read

Neural differentiation of Fragile X human Embryonic Stem Cells reveals abnormal patterns of development despite successful neurogenesis.Semantic proximity Read

Concise review: Fragile X proteins in stem cell maintenance and differentiation.Semantic proximity Read

New perspectives on the biology of fragile X syndrome.Semantic proximity Read

Human-mouse chimeric Fragile X syndrome model reveals FMR1-dependent neuronal phenotypesSemantic proximity Read

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.Semantic proximity Read

Single Cell Transcriptomics Reveals Dysregulated Cellular and Molecular Networks in a Fragile X Syndrome modelSemantic proximity Read

Novel fragile X syndrome 2D and 3D brain models based on human isogenic FMRP-KO iPSCsSemantic proximity Read

Fragile X syndrome.Semantic proximity Read

Molecular mechanisms regulating the defects in fragile X syndrome neurons derived from human pluripotent stem cells.Semantic proximity Read