Modeling fragile X syndrome in the Fmr1 knockout mouse

TM Kazdoba, PT Leach, JL Silverman… - Intractable & rare …, 2014 - jstage.jst.go.jp
Summary Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability
and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of …

A decade of molecular studies of fragile X syndrome

WT O'Donnell, ST Warren - Annual review of neuroscience, 2002 - annualreviews.org
▪ Abstract Fragile X syndrome is one of the most common forms of inherited mental
retardation. In most cases the disease is caused by the methylation-induced transcriptional …

Behavioral phenotypes of genetic mouse models of autism

TM Kazdoba, PT Leach… - Genes, Brain and …, 2016 - Wiley Online Library
More than a hundred de novo single gene mutations and copy‐number variants have been
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …

FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory

K Sawicka, CR Hale, CY Park, JJ Fak, JE Gresack… - Elife, 2019 - elifesciences.org
Loss of the RNA binding protein FMRP causes Fragile X Syndrome (FXS), the most common
cause of inherited intellectual disability, yet it is unknown how FMRP function varies across …

Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome

SKE Koekkoek, K Yamaguchi, BA Milojkovic… - Neuron, 2005 - cell.com
Absence of functional FMRP causes Fragile X syndrome. Abnormalities in synaptic
processes in the cerebral cortex and hippocampus contribute to cognitive deficits in Fragile …

Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice

PW Frankland, Y Wang, B Rosner, T Shimizu… - Molecular …, 2004 - nature.com
Fragile X syndrome (FXS) is the most common single gene (FMR1) disorder affecting
cognitive and behavioral function in humans. This syndrome is characterized by a cluster of …

Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning

W Guo, AM Allan, R Zong, L Zhang, EB Johnson… - Nature medicine, 2011 - nature.com
Deficiency in fragile X mental retardation protein (FMRP) results in fragile X syndrome (FXS),
an inherited form of intellectual disability. Despite extensive research, it is unclear how …

Deficits in trace fear memory and long-term potentiation in a mouse model for fragile X syndrome

MG Zhao, H Toyoda, SW Ko, HK Ding… - Journal of …, 2005 - Soc Neuroscience
Trace fear memory requires the activity of the anterior cingulate cortex (ACC) and is
sensitive to attention-distracting stimuli. Fragile X syndrome is the most common form of …

Modulation of hippocampus-dependent learning and synaptic plasticity by nicotine

JW Kenney, TJ Gould - Molecular neurobiology, 2008 - Springer
A long-standing relationship between nicotinic acetylcholine receptors (nAChRs) and
cognition exists. Drugs that act at nAChRs can have cognitive-enhancing effects and …

The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo

EJ Mientjes, I Nieuwenhuizen, L Kirkpatrick, T Zu… - Neurobiology of …, 2006 - Elsevier
The FMR1 gene, mutated in Fragile X syndrome patients, has been modeled in mice with a
neomycin cassette inserted in exon 5 of the mouse Fmr1 gene creating an Fmr1 knockout …