Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice DOI

Cinzia Vicidomini,

Luisa Ponzoni, Dmitry Lim

et al.

Molecular Psychiatry, Journal Year: 2016, Volume and Issue: 22(5), P. 689 - 702

Published: March 29, 2016

Language: Английский

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities DOI Open Access
Huda Y. Zoghbi, Mark F. Bear

Cold Spring Harbor Perspectives in Biology, Journal Year: 2012, Volume and Issue: 4(3), P. a009886 - a009886

Published: Jan. 18, 2012

Huda Y. Zoghbi1 and Mark F. Bear2 Howard Hughes Medical Institute, The Jan Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030; Department of Neuroscience Molecular Human Genetics, Baylor College Medicine, 77030 Picower for Learning Memory, Brain Cognitive Sciences, Massachusetts Technology, Cambridge, 02139 Correspondence: hzoghbi{at}bcm.edu; mbear{at}mit.edu

Language: Английский

Citations

750
Metabotropic Glutamate Receptor 5 Is a Coreceptor for Alzheimer Aβ Oligomer Bound to Cellular Prion Protein DOI Creative Commons

Ji Won Um,

A Kaufman, Mikhail A. Kostylev

et al.

Neuron, Journal Year: 2013, Volume and Issue: 79(5), P. 887 - 902

Published: Sept. 1, 2013

Language: Английский

Citations

526
The translation of translational control by FMRP: therapeutic targets for FXS DOI
Jennifer C. Darnell, Eric Klann

Nature Neuroscience, Journal Year: 2013, Volume and Issue: 16(11), P. 1530 - 1536

Published: April 14, 2013

Language: Английский

Citations

470
Altered Neuronal and Circuit Excitability in Fragile X Syndrome DOI Creative Commons
Anis Contractor, Vitaly A. Klyachko, Carlos Portera‐Cailliau

et al.

Neuron, Journal Year: 2015, Volume and Issue: 87(4), P. 699 - 715

Published: Aug. 1, 2015

Language: Английский

Citations

384
Exaggerated translation causes synaptic and behavioural aberrations associated with autism DOI
Emanuela Santini, Thu N. Huynh, Andrew F. MacAskill

et al.

Nature, Journal Year: 2012, Volume and Issue: 493(7432), P. 411 - 415

Published: Dec. 21, 2012

Language: Английский

Citations

345
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism DOI Creative Commons
Xiaoming Wang, Alexandra L. Bey, Brittany M. Katz

et al.

Nature Communications, Journal Year: 2016, Volume and Issue: 7(1)

Published: May 10, 2016

Abstract Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and circuit mechanisms underlying ASDs remain elusive. Here, we describe a complete knockout mouse model of autism-associated Shank3 gene, with deletion exons 4–22 (Δe4–22). Both mGluR5-Homer scaffolds mGluR5-mediated signalling are selectively altered striatal neurons. These changes associated perturbed function at synapses, abnormal brain morphology, structural ASD-like behaviour. In vivo recording reveals cortico-striatal-thalamic is tonically hyperactive mutants, becomes hypoactive during social Manipulation mGluR5 activity attenuates excessive grooming instrumental learning differentially, rescues impaired synaptic plasticity Δe4–22 −/− mice. findings show deficiency can impair scaffolding, resulting cortico-striatal abnormalities underlie behaviours. data causal links between genetic, molecular, pathophysiology ASDs.

Language: Английский

Citations

296
The WAVE Regulatory Complex Links Diverse Receptors to the Actin Cytoskeleton DOI Creative Commons
Baoyu Chen,

Klaus Brinkmann,

Zhucheng Chen

et al.

Cell, Journal Year: 2014, Volume and Issue: 156(1-2), P. 195 - 207

Published: Jan. 1, 2014

Language: Английский

Citations

282
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders DOI Creative Commons
Claudia Bagni, R. Suzanne Zukin

Neuron, Journal Year: 2019, Volume and Issue: 101(6), P. 1070 - 1088

Published: March 1, 2019

Language: Английский

Citations

282
Homeostatic Control of Presynaptic Neurotransmitter Release DOI
Graeme W. Davis, Martin Müller

Annual Review of Physiology, Journal Year: 2014, Volume and Issue: 77(1), P. 251 - 270

Published: Nov. 11, 2014

It is well established that the active properties of nerve and muscle cells are stabilized by homeostatic signaling systems. In organisms ranging from Drosophila to humans, neurons restore baseline function in continued presence destabilizing perturbations rebalancing ion channel expression, modifying neurotransmitter receptor surface expression trafficking, modulating release. This review focuses on modulation presynaptic release, termed homeostasis. First, we highlight criteria can be used define a process as being under control. Next, remarkable conservation homeostasis at Drosophila, mouse, human neuromuscular junctions emerging parallels synaptic connections mammalian central nervous system. We then recent progress identifying cellular molecular mechanisms. conclude reviewing between mechanisms genetic links neurological disease.

Language: Английский

Citations

263
Homeostatic Signaling and the Stabilization of Neural Function DOI Creative Commons
Graeme W. Davis

Neuron, Journal Year: 2013, Volume and Issue: 80(3), P. 718 - 728

Published: Oct. 1, 2013

Language: Английский

Citations

262