Altered neuronal and circuit excitability in fragile X syndrome
A Contractor, VA Klyachko, C Portera-Cailliau - Neuron, 2015 - cell.com
Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a
phenotypically complex disorder with a range of neurological and psychiatric problems …
phenotypically complex disorder with a range of neurological and psychiatric problems …
Dysregulation and restoration of translational homeostasis in fragile X syndrome
JD Richter, GJ Bassell, E Klann - Nature Reviews Neuroscience, 2015 - nature.com
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …
Kinetic analysis of protein stability reveals age-dependent degradation
Do young and old protein molecules have the same probability to be degraded? We
addressed this question using metabolic pulse-chase labeling and quantitative mass …
addressed this question using metabolic pulse-chase labeling and quantitative mass …
Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia
Consistent with recent reports indicating that neurons differentiated in vitro from human-
induced pluripotent stem cells (hiPSCs) are immature relative to those in the human brain …
induced pluripotent stem cells (hiPSCs) are immature relative to those in the human brain …
βCaMKII in lateral habenula mediates core symptoms of depression
The lateral habenula (LHb) has recently emerged as a key brain region in the
pathophysiology of depression. However, the molecular mechanism by which LHb becomes …
pathophysiology of depression. However, the molecular mechanism by which LHb becomes …
[HTML][HTML] FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels
Loss of FMRP causes fragile X syndrome (FXS), but the physiological functions of FMRP
remain highly debatable. Here we show that FMRP regulates neurotransmitter release in …
remain highly debatable. Here we show that FMRP regulates neurotransmitter release in …
ADHD and autism: differential diagnosis or overlapping traits? A selective review
R Taurines, C Schwenck, E Westerwald… - ADHD Attention Deficit …, 2012 - Springer
Abstract According to DSM-IV TR and ICD-10, a diagnosis of autism or Asperger Syndrome
precludes a diagnosis of attention-deficit/hyperactivity disorder (ADHD). However, despite …
precludes a diagnosis of attention-deficit/hyperactivity disorder (ADHD). However, despite …
CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation
S De Rubeis, E Pasciuto, KW Li, E Fernández… - Neuron, 2013 - cell.com
The CYFIP1/SRA1 gene is located in a chromosomal region linked to various neurological
disorders, including intellectual disability, autism, and schizophrenia. CYFIP1 plays a dual …
disorders, including intellectual disability, autism, and schizophrenia. CYFIP1 plays a dual …
Channelopathies in fragile X syndrome
PY Deng, VA Klyachko - Nature Reviews Neuroscience, 2021 - nature.com
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 …
leading monogenic cause of autism. The condition stems from loss of fragile X mental …
Applying mass spectrometry-based proteomics to genetics, genomics and network biology
M Gstaiger, R Aebersold - Nature Reviews Genetics, 2009 - nature.com
The systematic and quantitative molecular analysis of mutant organisms that has been
pioneered by studies on mutant metabolomes and transcriptomes holds great promise for …
pioneered by studies on mutant metabolomes and transcriptomes holds great promise for …