Sentences with phrase «of mutant huntingtin»

We hope this will allow WAVE to actually measure what they're trying to do, which is to reduce the levels of the mutant huntingtin protein in the brain.

We know that lowering the level of mutant huntingtin protein in HD mouse models significantly improves symptoms reminiscent of HD, providing hope that similar treatments in people may be effective.

The zinc finger protein sticks to the DNA of the mutant Huntingtin gene and turns off the gene's expression.

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.

Plus, there are other drugs being developed and tested that aim to slow or prevent HD in other ways, by helping restore normal functioning of the brain in the presence of the mutant huntingtin 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.

R6 / 2 mice have been genetically altered with an abnormal gene that makes them produce a harmful fragment of the mutant huntingtin protein

«A long - standing mystery among researchers was how the buildup of this mutant huntingtin caused cells to degrade and die, but previous technology made it virtually impossible to monitor this process at the cellular level.

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

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.

«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.»

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.

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

Grima used two mouse models of Huntington's disease: one with a human version of the mutant Huntingtin protein and another with an aggressive form of the disease that contains only the first portion of the mouse Huntingtin protein.

Astrocytes, an abundant supportive cell type in the brain, are better than neurons at disposing of mutant huntingtin, the toxic protein that drives Huntington's disease pathology, Xiao - Jiang Li and colleagues report in this week's PNAS.

the amino acid building block that is repeated too many times at the beginning of the mutant huntingtin protein

Clumps of mutant huntingtin protein in brain cells are a hallmark of HD, and they build up slowly, occupying more and more cells over time.

The scientists show that using CRISPR / Cas9 to «knock down» HspBP1 can help neurons get rid of mutant huntingtin and reduce early pathological signs.

The appearance of blobs of mutant huntingtin protein was reduced by about 40 %, too.

Activity of the mutant huntingtin gene was reduced by around 50 % in the brain near the injection site.

D2 - expressing striatal medium spiny neurons (MSN), giving rise to IP projections, appear more vulnerable to expression of mutant huntingtin (mHtt).

She uses a mouse model of Huntington's disease to study how brain cells clear away deposits of mutant huntingtin protein.

Project Title: In vivo genome - wide genetic screening for modifiers of mutant Huntingtin toxicity

Juliette Gafni, Theodora Papanikolaou, Francesco DeGiacomo, Jennifer Holcomb, Sylvia Chen, Menalled L.; Kudwa A.; Jon Fitzpatrick, Miller S.; Ramboz S.; Pasi Tuunanen, Kimmo Lehtimaki, Xiangdong William Yang, Seung Kwak, Larry Park, David Howland, Hyunsun Park, and Lisa Ellerby Caspase - 6 activity in a BAC HD mouse modulates steady state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment.

University of California, Irvine neurobiologists Leslie Thompson and Joseph Ochaba 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.

It is caused by a single gene mutation that results in the production of mutant huntingtin protein.

Children born to a parent with HD have a one in two chance of inheriting the disease, which is caused by a buildup of mutant huntingtin protein (mHTT).

The 120 repeat R6 / 2 mouse model of HD expresses a human transgene containing exon 1 of the mutant huntingtin gene and faithfully replicates many of the symptoms of the disease, including progressive loss of body weight, marked impairments in cognition, and severe motor deficits.

We've known for a little while that drugs that interfere with mTOR decrease levels of mutant huntingtin protein by helping cells destroy it after it's made.

As well as detecting the protein for the first time, the researchers found that the level of mutant huntingtin was higher in volunteers with more advanced disease.

The phase 1 / 2a study of IONIS - HTTRx was recently completed and showed the therapy to be safe and well - tolerated but also showed it's ability to reduce the level of mutant huntingtin in a dose dependent manner in Huntington's Disease patients.

Gafni J, Papanikolaou T, DeGiacomo F, Holcomb J, Chen S, Menalled L, Kudwa A, Fitzpatrick J, Miller S, Ramboz S, Tuunanen P, Lehtimaki K, William Y.X, Kwak S, Park L, Howland D, Park H, Ellerby L Caspase - 6 activity in a BAC HD mouse modulates steady state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment.

Gafni J, Papanikolaou T, DeGiacomo F, Holcomb J, Chen S, Menalled L, Kudwa A, Fitzpatrick J, Miller S, Ramboz S, Tuunanen P, Lehtimaki K, William YX, Kwak S, Park L, Howland D, Park H, Ellerby L.Caspase - 6 activity in a BACHD mouse modulates steady - state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment.