Research by Topic: Protein

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

Published December 8, 2015 in Epilepsia

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.

http://www.ncbi.nlm.nih.gov/pubmed/22946748

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

Published June 19, 2013 in Neuron

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.

http://www.ncbi.nlm.nih.gov/pubmed/23791193

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Fragile X Mutation May Produce Toxic Protein Clumps That Cause FXTAS

Published May 8, 2013 in Neuron

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.

http://www.ncbi.nlm.nih.gov/pubmed/23602499

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

Published December 21, 2012 in PubMed

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

http://www.ncbi.nlm.nih.gov/pubmed/23160955

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Rectifying Neuroligin Synthesis Reverses ASD Symptoms in Mice

Published November 21, 2012 in Nature

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

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11628.html

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Molecular Mechanisms: Autism Gene Regulates Neuron Shape

Published July 31, 2012 in Simons Foundation Austism Research Initiative

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.

http://sfari.org/news-and-opinion/in-brief/2012/molecular-mechanisms-autism-gene-regulates-neuron-shape

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Simple Worms could Help Unravel Complex Human Brains

Published July 25, 2012 in Simons Foundation Austism Research Initiative

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

http://sfari.org/news-and-opinion/toolbox/2012/simple-worms-could-help-unravel-complex-human-brains

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Researchers at MIT Use Zebrafish to Better Understand the Genetics of Autism

Published June 19, 2012 in http://www.sciencedaily.com/releases/2012/06/120619103618.htm

Researchers at MIT use zebrafish to better understand the genetics of autism.

http://www.sciencedaily.com/releases/2012/06/120619103618.htm

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

Published April 4, 2012 in PubMed

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

http://www.ncbi.nlm.nih.gov/pubmed/22495309

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

Published March 1, 2012 in Cold Spring Harb Perspect Biol

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

http://www.ncbi.nlm.nih.gov/pubmed/22258914

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Scientists Link Evolved, Mutated Gene Module to Syndromic Autism

Published January 26, 2012 in Science Daily

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.

Scientists Link Evolved, Mutated Gene Module to Syndromic Autism

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Autism may be linked to abnormal immune system characteristics and novel protein fragment

Published January 3, 2012 in MedicalXpress

Immune system abnormalities that mimic those seen with autism spectrum disorders have been linked to the amyloid precursor protein (APP), reports a research team from the University of South Florida’s Department of Psychiatry and the Silver Child Development Center.

Autism may be linked to abnormal immune system characteristics and novel protein fragment

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Protein Interactome Reveals Converging Molecular Pathways

Published June 8, 2011 in Science Translational Medicine

A recent study sheds light on how a variety of different mutations in genes that seemingly have little in common can each result in the symptoms of autism. To answer this question, researchers developed a molecular map of protein networks or "interactome" to identify how proteins associated with ASD interact with hundreds of other proteins. […]

http://www.ncbi.nlm.nih.gov/pubmed/21653829

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Neural Stem Cells Retain High Levels on Reactive Oxygen Species, Study Finds

Published January 6, 2011 in Science Daily

Researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have shown for the first time that neural stem cells, the cells that give rise to neurons, maintain high levels of ROS to help regulate normal self-renewal and differentiation. These findings may have significant implications for brain repair and abnormal brain development.

http://www.sciencedaily.com/releases/2011/01/110106144739.htm

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Study Links Immune Protein to Abnormal Brain Development

Published October 15, 2010 in Medical News Today

Insight into the role that MHC plays in the nervous system and may enhance our understanding of the factors that can contribute to neuropsychiatric disorders like autism and schizophrenia. Increased levels of a protein called major histocompatibility complex, or MHC, in fetal neurons may be a factor development of autism or schizophrenia.

http://www.medicalnewstoday.com/articles/204693.php

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Misfolded Neural Proteins Linked to Autism Disorders

Published September 11, 2010 in Science Daily

An international team of scientists, led by researchers at the University of California, San Diego, has identified misfolding and other molecular anomalies in a key brain protein associated with autism spectrum disorders.

http://www.sciencedaily.com/releases/2010/09/100910142751.htm

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

Published December 31, 1969 in Annual Review of Neuroscience

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

http://www.ncbi.nlm.nih.gov/pubmed/22715882

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