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UCLA researchers reveal unusual chemistry of protein with role in neurodegenerative disorders

A common feature of neurodegenerative diseases is the formation of permanent tangles of insoluble proteins in cells. The beta-amyloid plaques found in people with Alzheimer ’s disease and the inclusion bodies in motor neurons in the brains of people with amyotrophic lateral sclerosis are two examples. Those aggregates, and others like them, can kill cells and lead to debilitating and progressive neurodegenerative diseases.A study by Douglas Black and colleagues in UCLA ’s department of microbiology, immunology and molecular genetics, reveals that not all protein aggregates in brain cells are toxic. Their paper, published in the journal Cell, reports that an RNA-binding protein called Rbfox1, which is abundant in the brain, undergoes an unusual chemical transform ation to form nontoxic aggregates inside neurons, and that this aggregation is needed for Rbfox1 to perform its essential function, which is splicing RNA during the gene expression process.Mutations in the Rbfox1 gene are linked with some forms of familial epilepsy and autism spectrum disorder, so scientists are interested in understanding how Rbfox1 controls splicing in the brain. The new discovery is also important because the biochemistry of Rbfox1 is similar to those of proteins that are believed to play roles in several neurodegenerative disorders, including a protein called FUS, which aggregates in amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig ’s disease.In people with ALS, FUS...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news

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Source: AARP.org News - Category: American Health Source Type: news
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Source: AARP.org News - Category: American Health Source Type: news
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Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
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Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
This study explores the common characteristics of children with autism spectrum disorders (ASDs) and the available diagnostic and intervention currently practiced for children with ASDs in Ethiopia based on parents' experience. Data gathered from 100 parents in Ethiopia detail the difficulties families face when they suspect their child has an autism spectrum disorder (ASD). The data indicate Ethiopian parents pursued a diagnosis of ASD after noting common ASD behaviors such as hand flapping and unusual attachments to objects. Poor social interactions were the least likely to symptoms to prompt an ASD evaluation. The large...
Source: The American Journal of Orthopsychiatry - Category: Psychiatry Tags: Am J Orthopsychiatry Source Type: research
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Source: Daily Express - Health - Category: Consumer Health News Source Type: news
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Source: Systematic Reviews - Category: Global & Universal Source Type: research
Abstract Matricellular proteins (MCPs) are actively expressed non-structural proteins present in the extracellular matrix, which rapidly turnover and possess regulatory roles, as well as mediate cell-cell interactions. MCPs characteristically contain binding sites for other extracellular proteins, cell surface receptors, growth factors, cytokines and proteases, that provide structural support for surrounding cells. MCPs are present in most organs, including brain, and play a major role in cell-cell interactions and tissue repair. Among the MCPs found in brain include thrombospondin-1/2, secreted protein acidic and...
Source: Neurochemical Research - Category: Neuroscience Authors: Tags: Neurochem Res Source Type: research
Abstract Kir4.1 is an inwardly rectifying K+ channel expressed exclusively in glial cells in the central nervous system. In glia, Kir4.1 is implicated in several functions including extracellular K+ homeostasis, maintenance of astrocyte resting membrane potential, cell volume regulation, and facilitation of glutamate uptake. Knockout of Kir4.1 in rodent models leads to severe neurological deficits, including ataxia, seizures, sensorineural deafness, and early postnatal death. Accumulating evidence indicates that Kir4.1 plays an integral role in the central nervous system, prompting many laboratories to study the p...
Source: Acta Neuropathologica - Category: Neurology Source Type: research
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Source: JAMA Neurology - Category: Neurology Source Type: research
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