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Research by Topic: Protein
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.
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.
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.
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.
Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.
Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.
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.
The nematode “Caenorhabditis elegans” may serve as a useful model to study synapses, the junctions between neurons.
Researchers at MIT use zebrafish to better understand the genetics of autism.
Results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.
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.
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.
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.
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. […]
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.
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.
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.