Sentences with phrase «for huntingtin»

It was initially called ISIS - 443139, but lately it's been going by IONIS - HTTRx or just HTTRx — a combination of HTT, the abbreviation scientists use for the huntingtin gene, and Rx, a symbol used in the pharmaceutical industry meaning a treatment or prescription.

As the short - term administration periods for the huntingtin - lowering drug are extended, clinicians will continue to be watchful and to collect data that is essential to determine whether the treatment is safe and effective.

However, the neurological problems caused by disrupting this pathway have alerted us to a potentially significant role for huntingtin in the aging brain.

Together, these findings support a role for huntingtin in the intracellular trafficking of proteins required for the construction of the extracellular matrix.

17:17 - Using RNA sequencing, Brivanlou has identified 4 new RNA message molecules for huntingtin in embryo cells.

Canadian researchers have uncovered a potential role for huntingtin in the repair of DNA.

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.

Not exact matches

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 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.

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.

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

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.

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 already know from previous studies on the protein huntingtin, which spontaneously forms aggregates and is responsible for the development of the neurodegenerative disorder Huntington's disease, that protein aggregates also bind to essential proteins that have no defects.»

Scientists have known for some time that the mutated form of the huntingtin protein impairs mitochondria and that this disruption kills brain cells.

Zeitlin says the study may also help researchers find new targets for drugs against Huntington's — such as compounds that block the clumping of abnormal huntingtin.

In an earlier study, Subramaniam and his colleagues showed that Rhes binds to a series of repeats in the huntingtin protein (named for its association with Huntington's disease), increasing the death of neurons.

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.

an organism that has had one of its genes altered, for example by adding a long CAG repeat into the huntingtin gene.

If what you've read here about zinc finger technology reminds you of «gene silencing» or «huntingtin - lowering» methods for treating Huntington's disease, give yourself a gold star.

Huntingtin, the protein responsible for Huntington's disease, is fundamentally important for fetuses to develop in the womb, but we don't know yet exactly what part it plays in this intricate process.

Adult mice don't need the gene that, when mutated in humans, causes the inherited neurodegenerative disorder Huntington's disease. 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.

We know for sure that the mutation in the huntingtin gene is the ultimate reason why people get HD.

By placing aSyn and the huntingtin protein into the library separately and then monitoring each cell's reaction, they were able to deduce which genes are important for the cells to survive the toxic insult from aSyn, and which ones are needed to help the cells survive the huntingtin protein.

Caused by a mutation in the gene for a protein called huntingtin, the disease damages brain cells so that people with Huntington's progressively lose their ability to walk, talk, think and reason.

Correlation of CAG repeat length between the maternal and paternal allele of the Huntingtin gene: evidence for assortative mating.

«Huntington's — an inherited and fatal disorder that leads to problems with muscle coordination, cognition and personality — is characterized by the toxic buildup of a mutant form of the huntingtin protein in the brain,» explained Dr. Finkbeiner, who directs the Taube - Koret Center for Neurodegenerative Disease Research at Gladstone.

IONIS - HTTRx only reduces the huntingtin protein, so it would not work for SCA17 I'm afraid.

Emphasising their desire to move the drug forward, in a separate announcement made directly to the HD community, Ionis said «Upon study completion, the next step for this program will be to conduct a study to investigate if decreasing mutant huntingtin protein with IONIS - HTTRx can slow the progression of this terrible disease.»

With these details of translation in mind, a team of Huntington's disease researchers, led by Susann Schweiger of The Max Planck Institute for Molecular Genetics in Berlin, decided to study how huntingtin proteins are made from genes of different lengths.

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.

Huntingtin null neurons exhibit a significant reduction in transcripts encoding proteins destined for the extracellular space, many of which are components of the extracellular matrix or involved in cellular adhesion, receptor binding and hormone activity.

Features a clinical trials roundup, an exclusive interview with Prof Sarah Tabrizi about the first trial of a huntingtin lowering «gene silencing» drug, and a surprise for EHDN president Prof Bernhard Landwehrmeyer.

For the first time in history, HD patients are being treated with drugs known to reduce the amount of huntingtin protein in their brain.

We've known for twenty years now that the cause of Huntington's disease is a mutation in the huntingtin gene.

Years ago, they realized that HD was a perfect fit for their technology, because we know that if, in animals, we reduce the levels of the huntingtin protein in the brain, we improve their HD - like symptoms.

After huge leaps forward in recent years, we're edging ever closer to human trials of huntingtin lowering or «gene silencing» as a potential treatment for Huntington's Disease.

This approach is being used by WAVE Life Sciences, a company working on developing allele - specific huntingtin lowering drugs for HD.

For this reason, we need to understand more about what happens to the brain when huntingtin is removed.

The therapy we're most excited about for Huntington's disease is called huntingtin - lowering.

The more we understand about how the normal and extra-long huntingtin proteins are made and work in brain cells, the better equipped we'll be in the search for HD treatments.

During translation, however, the RNA instructions for extra-long huntingtin can also interact with a helper complex (the assistant chef from our analogy).

Rigorous experiments in animals have given way to clinical trials of drugs that target the HD gene in people, and there are more techniques for decreasing or eliminating huntingtin on the horizon.

Doing that lowered levels of the protein for which the gene is a recipe: mutant huntingtin.

In the huntingtin - lowering trial that is currently underway, the treatment is reversible, and participants are being carefully monitored for safety.

The mutation that causes Huntington's Disease alters instructions for building a protein called huntingtin.

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.