Sentences with phrase «muntant huntingtin»

Researchers led by Xiao - Jiang Li, MD, PhD and Shihua Li, MD, at Emory University School of Medicine, used genetically engineered mice in which the huntingtin gene can be deleted, triggered only when the mice are given the drug tamoxifen.

The huntingtin gene is essential for embryonic development, and scientists have already shown that if mouse embryos don't have it at conception, they die in utero.

The huntingtin gene encodes a large scaffold protein, with many interaction partners, which is thought to be involved in intracellular trafficking.

Additional research could make clear whether the post-natal role of huntingtin tapers off with age in humans in the same way that it does in mice.

In humans, Huntington's is an inherited disease caused by a gene encoding a toxic protein, called mutant huntingtin, which causes brain cells to die.

Last year Cuervo collaborated with Sheng Zhang, a professor at The University of Texas Health Science Center at Houston on experiments showing that huntingtin — the Huntington's disease protein — helps the cell's autophagy system identify what it should eliminate.

Huntington's disease is caused by a gene encoding a toxic protein (mutant huntingtin) that causes brain cells to die.

The finding suggests that treatment strategies for Huntington's that aim to shut off the huntingtin gene in adults — now in early clinical stages — could be safe.

However, it is possible that other more subtle alterations of behavior or memory are present in the huntingtin - deleted mice, he adds.

Researchers had focused so much on huntingtin's toxicity that it was surprising to discover this molecule has a regular day job, Cuervo notes.

In a nonhuman primate model geneticist Anthony Chan DVM, PhD, and his colleagues at Yerkes developed, rhesus macaques carry a gene encoding a fragment of mutant human huntingtin.

When the huntingtin gene is deleted at an age older than four months, these mice appeared to stay healthy, despite having lost their huntingtin genes in cells all over their bodies.

It is caused by a single gene abnormality which leads to the production of a mutant form of a protein called huntingtin (mHtt).

This abnormal binding causes more VCP accumulation on the mitochondria,» Nerve cells with VCP - mutant huntingtin interacting inside them became dysfunctional and self - destructed.

In Huntington's disease, mice carrying the pathologic genetic variant of the huntingtin gene are being used to understand how this genetic lesion causes degeneration of striatal neurons and to develop novel treatments for the illness.

Buck researchers established an unprecedented large - scale interaction network for the huntingtin protein identifying 2,141 highly interconnected proteins that have over 3,200 interactions among them.

Xin Qi, PhD, assistant professor of physiology and biophysics at Case Western Reserve University School of Medicine has been looking for proteins that interact with mutant huntingtin to better understand the initial steps of Huntington's disease progression.

Researchers analyzed protein interaction data generated at Prolexys Pharmaceuticals that identified more than 100 huntingtin interacting proteins (HIPs) and more than 2,000 proteins that interact with HIPs.

University of California, Irvine neurobiologists Leslie Thompson and Joseph Ochaba with the Departments of Neurobiology & Behavior and Psychiatry & Human Behavior and their colleagues from UCI and from Children's Hospital of Philadelphia have shown that reducing the aberrant accumulation of a particular form of the mutant Huntingtin protein corresponds to improvement in symptoms and neuroinflammation in HD mice.

«The damage caused by the mutant huntingtin protein radiates out through the cell, like a pebble dropped in a pond.

They cleverly designed a small protein, or peptide, with the same regions to disrupt the VCP - mutant huntingtin protein interaction.

The VCP inside mitochondria only interacted with mutant, but not healthy huntingtin protein.

The team identified the regions of VCP and mutant huntingtin that were interacting.

Mochly - Rosen and colleagues identified several other potential biomarkers that were elevated in HD model mice, including the levels of 8 - hydroxy - deoxy - guanosine, a product of oxidative DNA damage, in the urine and the presence of mutant huntingtin aggregates and oxidative damage in muscle and skin cells.

The researchers worked to identify ways to prevent VCP from heading to nerve cell mitochondria and interacting with mutant huntingtin protein once inside.

«Because mitochondrial dysfunction has been proposed to play an important role in the pathogenesis of Huntington's disease,» said Qi, «we investigated the binding proteins of mutant huntingtin on mitochondria.»

Huntington's disease is an inherited genetic disorder caused by mutations in the gene that encodes huntingtin protein.

The researchers showed that mice with mutant huntingtin had mitochondria full of VCP, as did nerve cells donated by people with Huntington's disease.

Researchers at the Buck Institute have identified and categorized thousands of protein interactions involving huntingtin, the protein responsible for Huntington's disease (HD).

Qi and colleagues discovered that VCP is recruited to nerve cell mitochondria by mutant huntingtin protein.

The study successfully countered harmful effects of mutant huntingtin and protected nerve cells in several models of Huntington's disease.

Hughes said Mooney employed sophisticated computational methods which allowed researchers to comprehensively analyze the functions or so - called «jobs» of the proteins and networks and how they might be impacted by the huntingtin mutation.

HD is caused by a mutation in the human HTT gene that results in an abnormal expansion and misfolding of the corresponding huntingtin protein.

Huntington's disease is caused by an expansion of glutamine residues in the huntingtin protein, altering its function and ultimately resulting in toxic aggregation of huntingtin fragments in neurons.

In a study published online in Genome Research, researchers developed a novel computational strategy to identify interaction partners of the huntingtin protein and discovered a novel factor that suppresses misfolding and aggregation.

Not long after the HD gene was isolated, studies led by MacDonald, also a co-author of the current investigation, found that a variation in the number of CAG trinucleotide repeats within the HD gene, which codes for a protein called huntingtin, is the primary determinant of the age at which HD symptoms appear, with a greater number of CAG repeats associated with an earlier symptom onset.

«The challenge that remains is if there are many proteins interacting with the huntingtin protein, we can not easily determine which are relevant for disease and which are not,» said Erich Wanker from Max Delbrück Center for Molecular Medicine and corresponding author of the study.

Different proteins are implicated in each disease: tau in Alzheimer's, alpha - synuclein in Parkinson's and huntingtin in Huntington's disease.

Yuan's team exposed human brain cells to Congo red between 6 and 48 hours after they began producing huntingtin.

Huntingtin, the single gene mutation responsible for the disease, was identified in 1993.

The repeated mutation that causes Huntington's disease lies within a gene that codes for a protein called huntingtin.

«We think the mutant huntingtin is being released into the CSF from the very brain cells it is killing,» said Dr Edward Wild of UCL Institute of Neurology.

In March Chris Ross and his colleagues reported that cells bearing mutant huntingtin could survive if they produced extra CBP.

Being able to detect and measure the amount of mutant huntingtin present in the nervous system will be a valuable way of seeing whether the gene - silencing drug is hitting its target and has the intended effect, lowering the amount of disease causing mHTT protein.

2015 will see the start of the first human clinical trial of a gene silencing or huntingtin - lowering drug, which specifically aims to reduce production of mutant huntingtin in the brains of HD patients.

The test, called a «single molecule counting assay», combines fluorescent antibodies with a laser detection chamber to count individual molecules of mutant huntingtin with a very low detection threshold.

In July, Elena Cattaneo and her colleagues at the University of Milan reported that mutant huntingtin affects another key neuron - survival protein called brain - derived neurotrophic factor (BDNF).

The international team of scientists from University College London, IRBM Promidis, University of British Columbia, and CHDI Foundation developed a new ultra-sensitive test using the Singulex SMC Technology Erenna Immunoassay system that is able to detect mutant huntingtin in the cerebrospinal fluid (CSF) of HD patients, including some who carry the HD mutation but have not yet developed symptoms.

The stutters produce long stretches of the amino acid glutamine in the huntingtin protein, and the resulting misshapen protein clumps up within neurons, destroying brain cells.

What's more, the concentration of mutant huntingtin predicted the severity of movement and cognitive problems in patients.