Sentences with phrase «huntingtin mutations»

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

Hughes said Mooney employed sophisticated computational methods which allowed researchers to comprehensively analyze the functions or so - called «jobs» of the proteins and networks and how they might be impacted by the huntingtin mutation.

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.

Not exact matches

Huntington's disease is an inherited genetic disorder caused by mutations in the gene that encodes huntingtin protein.

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

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.

The international team of scientists from University College London, IRBM Promidis, University of British Columbia, and CHDI Foundation developed a new ultra-sensitive test using the Singulex SMC Technology Erenna Immunoassay system that is able to detect mutant huntingtin in the cerebrospinal fluid (CSF) of HD patients, including some who carry the HD mutation but have not yet developed symptoms.

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

The disease is linked to a mutation in the Huntingtin gene, which causes a protein of the same name to fold up incorrectly like misshapen origami.

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

The mutation causing HD is an abnormal polyglutamine stretch in huntingtin.

Mutations on a single gene, the huntingtin gene, are the cause of Huntington's disease.

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.

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

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

Huntington's disease is caused by a mutation in the gene that's a recipe for a protein called huntingtin.