Mechanisms of epileptogenesis and potential treatment targets

A Pitkänen, K Lukasiuk - The Lancet Neurology, 2011 - thelancet.com
Prevention of epileptogenesis after brain trauma is an unmet medical challenge. Recent
molecular profiling studies have provided an insight into molecular changes that contribute …

Fragile X syndrome and targeted treatment trials

R Hagerman, J Lauterborn, J Au… - Modeling fragile X …, 2012 - Springer
Work in recent years has revealed an abundance of possible new treatment targets for
fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse …

Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice

A Michalon, M Sidorov, TM Ballard, L Ozmen… - Neuron, 2012 - cell.com
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability.
Previous studies have implicated mGlu5 in the pathogenesis of the disease, but a crucial …

Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome

EK Osterweil, DD Krueger, K Reinhold… - Journal of …, 2010 - Soc Neuroscience
Fragile X syndrome (FXS) is caused by loss of the FMR1 gene product FMRP (fragile X
mental retardation protein), a repressor of mRNA translation. According to the metabotropic …

Genetic-Background Modulation of Core and Variable Autistic-Like Symptoms in Fmr1 Knock-Out Mice

S Pietropaolo, A Guilleminot, B Martin, FR d'Amato… - PloS one, 2011 - journals.plos.org
Background No animal models of autism spectrum disorders (ASD) with good construct
validity are currently available; using genetic models of pathologies characterized by ASD …

Hyperexcitability and homeostasis in fragile X syndrome

X Liu, V Kumar, NP Tsai, BD Auerbach - Frontiers in Molecular …, 2022 - frontiersin.org
Fragile X Syndrome (FXS) is a leading inherited cause of autism and intellectual disability,
resulting from a mutation in the FMR1 gene and subsequent loss of its protein product …

Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond

C Gross, EM Berry-Kravis, GJ Bassell - Neuropsychopharmacology, 2012 - nature.com
Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of
function of the fragile X mental retardation protein (FMRP). In the absence of FMRP …

Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons

M Moradi, R Sivadasan, L Saal, P Lüningschrör… - Journal of Cell …, 2017 - rupress.org
Axonal branching and terminal arborization are fundamental events during the
establishment of synaptic connectivity. They are triggered by assembly of actin filaments …

Origins of epilepsy in fragile X syndrome

PJ Hagerman, CE Stafstrom - Epilepsy Currents, 2009 - journals.sagepub.com
Fragile X syndrome is the leading heritable form of cognitive impairment and the leading
known monogenic disorder associated with autism. Roughly one-quarter of children with this …

Involvement of Rho-family GTPases in axon branching

M Spillane, G Gallo - Small GTPases, 2014 - Taylor & Francis
Development of the nervous system requires efficient extension and guidance of axons and
dendrites culminating in synapse formation. Axonal growth and navigation during …