Sentences with phrase «with mutant huntingtin»

Blocking nuclear export seemed to prevent cells from dying and counteracted the defects in neurons with mutant Huntingtin, the researchers say.

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

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

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.

Not exact matches

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

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.

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 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.

Next, Grima looked at cell death in cultured neurons with a healthy or a mutant form of Huntingtin, or with a mutant form of Huntingtin that was treated with small amounts of an experimental drug called KPT - 350, one that prevents a nuclear export protein, Exportin - 1, from shuttling proteins and RNA out of the nucleus.

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.

Neurons with the healthy version of Huntingtin had about 18 percent die off, and neurons with the mutant version of Huntingtin had about 38 percent die off.

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

Any effects were small compared with the desirable action on the mutant huntingtin gene.

«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.

Using neurons extracted from rodent models of Huntington's, the team employed the OPL method, which tracked the speed and efficiency with which different types of neurons were able to break down and dissolve the mutant huntingtin.

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.»

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.

Mutant huntingtin, although altered, is still present, and most people with HD have normal huntingtin, too.

For example, if we block mutant huntingtin production in cells or animals with «gene silencing» techniques, how can we confirm that this treatment actually does what it's supposed to do in the brains of patients with HD?