Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models
E Taoufik, G Kouroupi, O Zygogianni… - Open …, 2018 - royalsocietypublishing.org
Synaptic dysfunction in CNS disorders is the outcome of perturbations in physiological
synapse structure and function, and can be either the cause or the consequence in specific …
synapse structure and function, and can be either the cause or the consequence in specific …
[HTML][HTML] Human models are needed for studying human neurodevelopmental disorders
X Zhao, A Bhattacharyya - The American Journal of Human Genetics, 2018 - cell.com
The analysis of animal models of neurological disease has been instrumental in furthering
our understanding of neurodevelopment and brain diseases. However, animal models are …
our understanding of neurodevelopment and brain diseases. However, animal models are …
Functional changes of AMPA responses in human induced pluripotent stem cell–derived neural progenitors in fragile X syndrome
VS Achuta, T Möykkynen, UK Peteri, G Turconi… - Science …, 2018 - science.org
Altered neuronal network formation and function involving dysregulated excitatory and
inhibitory circuits are associated with fragile X syndrome (FXS). We examined functional …
inhibitory circuits are associated with fragile X syndrome (FXS). We examined functional …
[HTML][HTML] Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells
N Sunamura, S Iwashita, K Enomoto, T Kadoshima… - Scientific Reports, 2018 - nature.com
Fragile X syndrome (FXS) is caused by transcriptional silencing of the FMR1 gene during
embryonic development with the consequent loss of the encoded fragile X mental …
embryonic development with the consequent loss of the encoded fragile X mental …
[HTML][HTML] THC exposure of human iPSC neurons impacts genes associated with neuropsychiatric disorders
B Guennewig, M Bitar, I Obiorah, J Hanks… - Translational …, 2018 - nature.com
There is a strong association between cannabis use and schizophrenia but the underlying
cellular links are poorly understood. Neurons derived from human-induced pluripotent stem …
cellular links are poorly understood. Neurons derived from human-induced pluripotent stem …
[HTML][HTML] Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome
Fragile X syndrome (FXS) is the most prevalent inherited intellectual disability, resulting from
a loss of fragile X mental retardation protein (FMRP). Patients with FXS suffer lifelong …
a loss of fragile X mental retardation protein (FMRP). Patients with FXS suffer lifelong …
[HTML][HTML] Increased calcium influx through L-type calcium channels in human and mouse neural progenitors lacking fragile X mental retardation protein
C Danesi, VS Achuta, P Corcoran, UK Peteri, G Turconi… - Stem cell reports, 2018 - cell.com
The absence of FMR1 protein (FMRP) causes fragile X syndrome (FXS) and disturbed
FMRP function is implicated in several forms of human psychopathology. We show that …
FMRP function is implicated in several forms of human psychopathology. We show that …
A transcriptome comparison of time-matched developing human, mouse and rat neural progenitor cells reveals human uniqueness
S Masjosthusmann, D Becker, B Petzuch… - Toxicology and applied …, 2018 - Elsevier
It is widely accepted that human brain development has unique features that cannot be
represented by rodents. Obvious reasons are the evolutionary distance and divergent …
represented by rodents. Obvious reasons are the evolutionary distance and divergent …
[HTML][HTML] Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 …
J Barnes, F Salas, R Mokhtari, H Dolstra, E Pedrosa… - Molecular autism, 2018 - Springer
Background Lowe syndrome (LS) is a rare genetic disorder caused by loss of function
mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5 …
mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5 …
Autism spectrum disorders and disease modeling using stem cells
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex
lifelong neurodevelopment disabilities, which may affect the ability of communication and …
lifelong neurodevelopment disabilities, which may affect the ability of communication and …