Protein

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities.

Source: 
Cold Spring Harb Perspect Biol
Date Published: 
March 1, 2012
Year Published: 
2012
Abstract: 

The human studies unveiled the sensitivity of cognitive function to precise levels of different proteins.

Using Fluorescent Proteins, Scientists Find A New Way To Light Up Living Neurons for Research.

Source: 
Neuron
Date Published: 
June 19, 2013
Abstract: 

Scientists have found a new way to light up living cells for research. Using fluorescent proteins, scientists can reveal connections between neurons in the brain.

Fragile X Mutation May Produce Toxic Protein Clumps That Cause FXTAS

Source: 
Neuron
Date Published: 
May 8, 2013
Abstract: 

University of Michigan study finds that a mild form of the fragile X mutation produces protein clumps that may trigger fragile X-associated tremor/ataxia.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Source: 
PubMed
Date Published: 
April 4, 2012
Abstract: 

Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

Source: 
PubMed
Date Published: 
December 21, 2012
Abstract: 

Data supports associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology.

The Complement System: An Unexpected Role in Synaptic Pruning During Development and Disease

Source: 
Annual Review of Neuroscience
Date Published: 
2012
Abstract: 

Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.

Focal Seizures with Affective Symptoms are a Major Feature of PCDH19 Gene-Related Epilepsy.

Source: 
Epilepsia
Date Published: 
December, 2012
Abstract: 

Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. Awareness of this distinctive phenotype will likely enhance recognition of this disorder.

Rectifying Neuroligin Synthesis Reverses ASD Symptoms in Mice

Source: 
Nature
Date Published: 
November 21, 2012
Abstract: 

Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.

Molecular Mechanisms: Autism Gene Regulates Neuron Shape

Source: 
Simons Foundation Austism Research Initiative
Date Published: 
July 31,2012
Abstract: 

Scientists at MIT have found that TAOK2, a gene in the autism-associated chromosomal region, is part of a signaling pathway that builds neuronal connections during development.

Simple Worms could Help Unravel Complex Human Brains

Source: 
Simons Foundation Austism Research Initiative
Date Published: 
July 25, 2012
Abstract: 

The nematode "Caenorhabditis elegans" may serve as a useful model to study synapses, the junctions between neurons.