Work

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

Year: 2018

Type: article

Abstract: mutations that might contribute to neuronal dysfunction in FXS. In addition, our results suggest that FXS patient iPS cell-derived neurons might be useful for studying the mechanisms mediating functional abnormalities in FXS.

Source: Science Translational Medicine

DOI: 10.1126/scitranslmed.aar4338

Authors: Zhenjie Zhang, Samuele G. Marro, Yingsha Zhang, Kristin L. Arendt, Christopher Patzke, Bo Zhou, Tyler Fair, Nan Yang, Thomas C. Südhof, Marius Wernig, Lu Chen

Institutions: Stanford Medicine, Stanford University, Institute for Stem Cell Biology and Regenerative Medicine, Howard Hughes Medical Institute

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: U.S. Department of Defense, Howard Hughes Medical Institute, FRAXA Research Foundation, New York Stem Cell Foundation, National Institutes of Health, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2973005563, G3021820703, G3677207768, G3739355248, G4169262248, G4855265510, APP, Alzheimer's Disease, and Synaptic Function, G5293575655, G5639505203, G5799761610, G5949435300, G6314127573, G8192873576

OpenAlex ID: W2885970514

FWCI: 5.685

Cites: 96

Cited by: 113

Related to: 10