Sentences with phrase «human huntingtin»

These three monkeys carried a gene encoding a fragment of mutant human huntingtin.

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.

Not exact matches

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.

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.

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

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

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.

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.

When they stained brain samples taken from human Huntington's victims, they found that the characteristic globs consist of full - length mutant huntingtin, rather than peptide fragments from the mutant.

In an announcement likely to stand as one of the biggest breakthroughs in Huntington's disease since the discovery of the HD gene in 1993, Ionis and Roche today announced that the first human trial of a huntingtin - lowering drug, IONIS - HTTRx, demonstrates that it reduces mutant huntingtin in the nervous system, and is safe and well - tolerated.

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.

Dominant - Negative Effects of Adult - Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells - Derived Neural Cells.

So far, there are promising reports on the short - term safety of reducing huntingtin levels in adult humans.

Ionis» trial, led in partnership with Prof Sarah Tabrizi of University College London, was the first time a targeted huntingtin - lowering drug had been tested in humans.

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.

The current ASO trial in humans is a huntingtin lowering, or gene silencing therapy, which works to disable both copies of the HD gene in short bursts.

Importantly, both studies suggest that we need to continue our current cautious approach when lowering normal huntingtin in human studies.

We will need to continue to use caution when removing or lowering normal huntingtin in human studies

Here, we examine wild - type huntingtin's localization in cultured cells by expressing the full - length human protein tagged with enhanced green fluorescent protein (EGFP) within its unspliced genomic context.

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.

Spontaneous expansion of the CAG repeat stretch in the CAG 140 KI mouse model, which carries a chimeric mouse / human exon 1 containing around 125 CAG repeats and the human polyproline region inserted in the murine huntingtin gene (Menalled et al., 2003, Hickey et al., 2008), has recently led to a new KI line that carries around 190 CAG repeats (CAG 190 KI) in a congenic C57Bl / 6J background.

The CAG 140 KI mouse model carries a chimeric mouse / human exon 1 containing around 125 CAG repeats and the human polyproline region inserted in the murine huntingtin gene.

Numerous mouse models have been generated to examine the pathogenesis of the disease and to evaluate therapeutic approaches, but the most precise genetic reproductions of the human condition are the knock - in (KI) mouse models which express the huntingtin mutation in the proper genetic and protein context on the murine gene.