Sentences with phrase «of htt»

More recently, she has discovered a normal association of htt with specific phosphoinositol phosphates (PIPs).

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.

Humans have two copies of the HTT gene, HD happens when a mutation makes one copy too big.

Furthermore, postnatal inactivation of htt in brain and testis produces a progressive behavioral phenotype, neurodegeneration, and reduced survival suggesting that htt is required for neuronal function and survival (Dragatsis et al., 2000).

These results highlight the potential toxic liabilities of therapies aimed at significantly reducing both WT and MT htt and indicate the need for a better understanding of the lower limits of htt suppression that can be tolerated prior to the onset of toxicity.

Reduction of htt to 50 % endogenous levels produces viable mice with no overt phenotypes (Duyao et al., 1995; Zeitlin et al., 1995) however more detailed evaluation has revealed deficits in cognition and motor behavior (Nasir et al., 1995) raising the possibility that lowered htt starting in development may have adverse effects in the mouse.

Furthermore, postnatal inactivation of htt in brain and testes also produces a progressive behavioral phenotype in mice along with neurodegeneration and reduced survival.

Thus, neural derivatives of disease - specific human pluripotent stem cells constitute a relevant biological resource for exploring the impact of adult - onset HD mutations of the HTT gene on the division of neural progenitors, with potential applications in HD drug discovery targeting HTT - dynein - p150Glued complex interactions.

The RNAi - mediated silencing of both HTT alleles in neural stem cells derived from hESCs disrupted spindle orientation and led to the mislocalization of dynein, the p150Glued subunit of dynactin and the large nuclear mitotic apparatus (NuMA) protein.

We also investigated the effect of the adult - onset HD mutation on the role of HTT during spindle orientation in NSCs derived from HD - hESCs.

They used the gene editing technology CRISPR to engineer a series of human embryonic stem cell lines, which were identical apart from the number of DNA repeats that occurred at the ends of their HTT genes.

«Both the role of the HTT protein and the timing of treatment need to be reconsidered; by the time a patient is displaying symptoms, it may be too late to medicate.

However, Brivanlou's work shows that the brain disruption may actually be due to a lack of HTT protein activity.

«It's a validation of the fact that our model works,» CEO of HTT Dirk Ahlborn told Wired.

Not exact matches

Hyperloop Transportation Technologies (HTT) and Virgin Hyperloop One are sniping over the use of the name «hyperloop.»

Next week, Musk's SpaceX is hosting a capsule design competition where high school and college students will present designs in hopes of winning a $ 50,000 prize and the opportunity to work with HTT competitor Hyperloop Technologies.

Hyperloop Tech and HTT both launched soon after with the goal of getting pods into tubes.

As The Wall Street Journal reported last year, HTT's open model hasn't kept it from earning partnerships with the likes of engineering software firm ANSYS (anss) and UCLA's Suprastudio architecture program.

During the event, Fortune sat down with the leadership of L.A. - based Hyperloop Tech and they had some tough talk for the very similarly named Hyperloop Transportation Technologies (or HTT).

Hyperloop Transportation Technologies (HTT)-- one of the three players developing a futuristic train system invented by billionaire Elon Musk — has a lot to offer to Indian customers.

Musk, whose interests span electric cars, solar power and space rockets, isn't interested in commercially developing the idea, so a number of companies, including HTT, have pounced on it.

According to an announcement from Hyperloop Transportation Technologies (HTT) on Thursday, the project has added to its roster of engineers and architects.

Since then, a research company called Hyperloop Transportation Technologies (HTT)-- unaffiliated with Musk or any of his other companies and ventures — is right on track to making science - fiction legit science by building an actual test track for the technology in California.

He remains close to members of both startups currently in the lead to produce the first working Hyperloop — Hyperloop Transportation Technologies, or HTT, and Hyperloop Technologies Inc., or HTI.

Hyperloop Transportation Technologies (HTT) announced plans for a 5 - mile test track late last year and is about to break ground on an initial framework for what HTT CEO Dirk Ahlborn hopes will become the U.S. transportation infrastructure of the future.

Quay also gives HTT a chance to experiment with newer digital tools Ahlborn believes should be a part of modern transportation.

It's about $ 20 million per mile to build HTT's version of the Hyperloop, according to Ahlborn — a fraction of the current cost of building high - speed rail in the U.S.

It halts an intermediate step in the protein - making process by binding to genetic material known as RNA, blocking the issuing of final instructions for making the Htt protein.

Next up: a larger trial in hundreds of patients to see if lowering mutant Htt protein slows progression of the disease, then a trial in healthy people who carry the mutant HTT gene to see if antisense treatments could prevent Huntington's altogethHtt protein slows progression of the disease, then a trial in healthy people who carry the mutant HTT gene to see if antisense treatments could prevent Huntington's altogethHTT gene to see if antisense treatments could prevent Huntington's altogether.

Each case can be traced to a bunch of repeated code letters of DNA within a single gene called HTT.

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

Treatments for Huntington's have typically focused on blocking the activity of the mutant HTT protein, the assumption being that the altered form of the protein was more active than normal, and therefore toxic to neurons.

Mutations of the huntingtin protein (HTT) gene underlie both adult - onset and juvenile forms of Huntington's disease (HD).

Finally we aim at identifying phenotype specific transcriptional targets of mutant HTT (mut - HTT) or HTT loss of function in relevant neuronal / glial populations.

By combining SNP - targeting allele - specific silencing and gain - of - function approaches, we showed that a 46 - glutamine expansion in human HTT was sufficient for a dominant - negative effect on spindle orientation and changes in the distribution within the spindle pole and the cell cortex of dynein, p150Glued and NuMA in neural cells.

Molecular studies at PsychoGenics and other organizations have demonstrated that the excision of the neomycin resistance cassette results in a modest but significant increase in mutant HTT mRNA levels, and a trend towards an increase in soluble mHTT protein and extranuclear inclusions.

The short form of 5 - HTT is associated with depression and suicide, but only if you experience many highly stressful life events.

Expression of mutant Htt appeared to alter the firing rate of STN neurons, as firing rates in HET and HOM mice were lower than their WT littermate.

Reduction of endogenous striatal htt using siRNA in rats expressing Htt171 - 82Q had no further detrimental effect on neuronal survival nor htt inclusion load indicating that partial inactivation of endogenous WT htt in the adult striatum (~ 50 %) had no major impact on the course of HD pathology (Drouet et al, 2009).

A 50 % reduction in HDAC4 restored these and other electrophysiological changes in both the R6 / 2 model, a transgenic over-expresser of Exon 1 HTT with an expanded polyglutamine repeat, and heterozygous Q175 knock - in mice (Q175 + / --RRB-, which carry one normal and one mutant HTT allele with an expanded repeat of ~ 190 polyglutamines, in addition to reversing behavioral alterations in R6 / 2 mice (Mielcarek et al, 2013; PLOS Biology, in press).

While Htt null KO mice do not survive to birth (Duyao et al., 1995; Nasir et al., 1995; Zeitlin et al., 1995), mice expressing a 50 % reduction of endogenous htt levels reveal cognitive and motor deficits (Nasir et al., 1995) and significant decreases in the number of neurons in globus pallidus and subthalamic nucleus (O'Kusky et al., 199Htt null KO mice do not survive to birth (Duyao et al., 1995; Nasir et al., 1995; Zeitlin et al., 1995), mice expressing a 50 % reduction of endogenous htt levels reveal cognitive and motor deficits (Nasir et al., 1995) and significant decreases in the number of neurons in globus pallidus and subthalamic nucleus (O'Kusky et al., 199htt levels reveal cognitive and motor deficits (Nasir et al., 1995) and significant decreases in the number of neurons in globus pallidus and subthalamic nucleus (O'Kusky et al., 1999).

In order to better understand the liabilities associated with reducing normal htt in adult mice, we evaluated the effects of a robust knock down of WT htt both in CNS and periphery in a conditional htt knock - down (KD) model induced by doxycycline.

More research is needed to further explore the role of WT htt in the adult as well as to determine what level of adult WT htt knockdown will be permissible while attempting to reduce the mutant Htt protehtt in the adult as well as to determine what level of adult WT htt knockdown will be permissible while attempting to reduce the mutant Htt protehtt knockdown will be permissible while attempting to reduce the mutant Htt proteHtt protein.

Many functions of huntingtin (htt) protein have been revealed, but the full function is still not completely understood.

These data indicate that the disease mechanism may at least be partially driven by a loss - of - function in the htt protein.

We present here the first comprehensive behavioral analysis of the effects of a conditional knock - down (starting at 4.5 weeks of age) of WT endogenous htt in adult mice in the absence of any potential mutant gain - of - function.

Several research teams, studying different groups of patients, are already trying to replicate the team's discovery of a link between autism and the HTT promoter.

They developed a way to switch off Cas once it's finished editing the HTT gene, thereby reducing the chances of it triggering an immune reaction or cutting somewhere it shouldn't.

Unfortunately, that means that about one third of people have the same ribbons at these points on both the good and bad kites, so these drugs wouldn't specifically target the mutant HTT gene.

The BAC (Bacterial Artificial Chromosome) mouse model of Huntington's disease expresses the full length human htt transgene and has been well - characterized for its progressively impaired motor function.