Drosophila models of neurological disease contribute tremendously to research progress
due to the high conservation of human disease genes, the powerful and sophisticated�…

ABSTRACT 22q11. 2 Deletion Syndrome (22q11DS) is a neurodevelopmental disorder
associated with cranial nerve anomalies and disordered oropharyngeal function, including�…

causes it? Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder and the
leading heritable form of intellectual disability. Although the defining clinical feature is mild to�…

Introduction: Ligands at the benzodiazepine binding site of the GABAA receptor (GABAAR)
act by modulating the effect of GABA (γ-aminobutyric acid). The benzodiazepine drugs are�…

Fragile X syndrome (FXS) is a monogenic disorder characterized by intellectual disability
and behavioral challenges. It is caused by aberrant methylation of the fragile X mental�…

In human brain, there are about 86 billion neurons that connect each other to form
sophisticated networks (Li and Sheng, 2022). The communication between neurons largely�…

Understanding the chemical composition of the brain helps researchers comprehend
various neurological processes effectively. Understanding of the fundamental pathological�…

罕见病指一类发病率低, 发病机制复杂, 病情严重, 进展迅速的单病种疾病.
多数罕见病有遗传背景, 在儿童期即可发病. 关注遗传相关儿童罕见病, 早期诊治�…

Secreted amyloid precursor protein alpha (sAPPα) processed from a parent human brain
protein, APP, can modulate learning and memory. It has potential for development as a�…

Short tandem repeat (STR) instability is causally linked to pathologic transcriptional
silencing in a subset of repeat expansion disorders. In fragile X syndrome (FXS), instability�…