Channelopathies in fragile X syndrome

• Published in: Nature reviews. Neuroscience Vol. 22; no. 5; pp. 275 - 289
• Main Authors: Deng, Pan-Yue, Klyachko, Vitaly A.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.05.2021; Nature Publishing Group
• Subjects: 631/378/1689/1373; 631/378/1689/2115; Animal Genetics and Genomics; Animal models; Animals; Autism; Behavioral Sciences; Biological Techniques; Biomedical and Life Sciences; Biomedicine; Channelopathies; Channelopathies - etiology; Channelopathies - genetics; Channelopathies - physiopathology; Development and progression; Drug therapy; Excitability; FMR1 protein; Fragile X Mental Retardation Protein - genetics; Fragile X syndrome; Fragile X Syndrome - complications; Fragile X Syndrome - genetics; Fragile X Syndrome - physiopathology; Genetic aspects; Health aspects; Humans; Intellectual disabilities; Ion channels; Neurobiology; Neurosciences; Pathophysiology; Phenotypes; Protein interaction; Proteins; Recovery of function; Review Article; United States

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism. The condition stems from loss of fragile X mental retardation protein (FMRP), which regulates a wide range of ion channels via translational control, protein–protein inter...