RNA-binding proteins in human genetic disease

KE Lukong, K Chang, EW Khandjian, S Richard - Trends in Genetics, 2008 - cell.com
RNA-binding proteins (RBPs) are key components in RNA metabolism, regulating the
temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has …

Realistic expectations of prepulse inhibition in translational models for schizophrenia research

NR Swerdlow, M Weber, Y Qu, GA Light, DL Braff - Psychopharmacology, 2008 - Springer
Introduction Under specific conditions, a weak lead stimulus, or “prepulse”, can inhibit the
startling effects of a subsequent intense abrupt stimulus. This startle-inhibiting effect of the …

Loss of autophagy in the central nervous system causes neurodegeneration in mice

M Komatsu, S Waguri, T Chiba, S Murata, J Iwata… - Nature, 2006 - nature.com
Protein quality-control, especially the removal of proteins with aberrant structures, has an
important role in maintaining the homeostasis of non-dividing neural cells. In addition to the …

Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

P Jin, DC Zarnescu, S Ceman, M Nakamoto… - Nature …, 2004 - nature.com
Fragile X syndrome is caused by a loss of expression of the fragile X mental retardation
protein (FMRP). FMRP is a selective RNA-binding protein which forms a messenger …

New World and Old World alphaviruses have evolved to exploit different components of stress granules, FXR and G3BP proteins, for assembly of viral replication …

DY Kim, JM Reynaud, A Rasalouskaya… - PLoS …, 2016 - journals.plos.org
The positive-strand RNA viruses initiate their amplification in the cell from a single genome
delivered by virion. This single RNA molecule needs to become involved in replication …

[HTML][HTML] CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein

A Schenck, B Bardoni, C Langmann, N Harden… - Neuron, 2003 - cell.com
Neuronal plasticity requires actin cytoskeleton remodeling and local protein translation in
response to extracellular signals. Rho GTPase pathways control actin reorganization, while …

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 …

The use of behavioral test batteries, II: effect of test interval

R Paylor, CM Spencer, LA Yuva-Paylor… - Physiology & …, 2006 - Elsevier
Test batteries are commonly used to assess the behavioral phenotype of genetically
modified and inbred strains of mice. However, few systematic studies have been employed …

The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits

SB Christie, MR Akins, JE Schwob… - Journal of …, 2009 - Soc Neuroscience
The loss of Fragile X mental retardation protein (FMRP) causes Fragile X syndrome, the
most common inherited mental retardation and single gene cause of autism. Although …

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 …