Modeling neurological diseases with human brain organoids

H Wang - Frontiers in synaptic neuroscience, 2018 - frontiersin.org
The complexity and delicacy of human brain make it challenging to recapitulate its
development, function and disorders. Brain organoids derived from human pluripotent stem …

GABA type a receptor trafficking and the architecture of synaptic inhibition

JM Lorenz‐Guertin, TC Jacob - Developmental neurobiology, 2018 - Wiley Online Library
Ubiquitous expression of GABA type A receptors (GABAAR) in the central nervous system
establishes their central role in coordinating most aspects of neural function and …

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome

AJ Thurman, LA Potter, K Kim, F Tassone… - Journal of …, 2020 - Springer
Background The purpose of this study was to conduct a 20-week controlled trial of lovastatin
(10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with …

FMRP expression levels in mouse central nervous system neurons determine behavioral phenotype

J Arsenault, S Gholizadeh, Y Niibori, LK Pacey… - Human gene …, 2016 - liebertpub.com
Fragile X mental retardation protein (FMRP) is absent or highly reduced in Fragile X
Syndrome, a genetic disorder causing cognitive impairment and autistic behaviors. Previous …

Optogenetics enlightens neuroscience drug discovery

C Song, T Knöpfel - Nature Reviews Drug Discovery, 2016 - nature.com
Optogenetics—the use of light and genetics to manipulate and monitor the activities of
defined cell populations—has already had a transformative impact on basic neuroscience …

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

WE Kaufmann, JL Stallworth, DB Everman… - Expert opinion on …, 2016 - Taylor & Francis
Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily
affects females, typically resulting in a period of developmental regression in early childhood …

Genetic animal models for autism spectrum disorder

JC Schroeder, D Reim, TM Boeckers… - Social behavior from …, 2017 - Springer
Autism spectrum disorder (ASD) affects approximately 1% of the human population and has
a strong genetic component. Hence, the recent discovery of major “ASD genes” has …

Interference of the complex between NCS-1 and Ric8a with phenothiazines regulates synaptic function and is an approach for fragile X syndrome

A Mansilla, A Chaves-Sanjuan… - Proceedings of the …, 2017 - National Acad Sciences
The protein complex formed by the Ca2+ sensor neuronal calcium sensor 1 (NCS-1) and the
guanine exchange factor protein Ric8a coregulates synapse number and probability of …

A psychometric evaluation of the motor-behavioral assessment scale for use as an outcome measure in Rett syndrome clinical trials

M Raspa, CM Bann, A Gwaltney… - … on intellectual and …, 2020 - meridian.allenpress.com
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females.
Recent work indicates the potential for disease modifying therapies. However, there remains …

Proteomic profiling of brain and testis reveals the diverse changes in ribosomal proteins in fmr1 knockout mice

B Xu, Y Zhang, S Zhan, X Wang, H Zhang, X Meng… - Neuroscience, 2018 - Elsevier
Fragile X syndrome (FXS), the leading cause of inherited forms of mental retardation and
autism, is caused by the transcriptional silencing of fmr1 encoding the fragile X mental …