Huntington's disease (HD) is a neurodegenerative disease caused by a cytosine adenosine guanine (CAG) expansion in the huntingtin gene. The length of the triplet repeat is the most important factor in determining age of onset and the severity of the disease, but substantial variability of these...
Because of its full penetrance, carriers of the mutated huntingtin gene with more than 40 CAG repeats will inevitably develop the disease. This predictability might provide an opportunity for early intervention with the emergence of disease-modifying therapies to lower mutant huntingtin protein ...
Huntington's disease (HD) is a devastating hereditary neurodegenerative disorder caused by a CAG mutation within the IT15 gene encoding huntingtin protein. Even though mutant and normal huntingtin are ubiquitously expressed, the degenerative processes primarily occur within the striatum and particularly ...
Moreover, the specific role of each HDAC is directly related to their specific molecular substrates. To our knowledge, more than 50 non-histone proteins have been identified as substrates for HDACs [9]. On the basis of animal tissue expression and serial analysis of gene expression (SAGE) ...
Huntington’s disease (HD) is a fatal neurodegenerative disorder characterized by psychiatric, cognitive, and motor dysfunction. The genetic analysis of HD has been the flagship study of inherited neurological diseases from initial chromosomal localization to identification of theHuntingtongene. It has bee...
the molecular mechanism that regulates host-microbiota homeostasis in normal and ASD states is not known. The analyses needed to address this knowledge gap are challenging to perform in humans and rodents due to the high costs and tedious process of comparing the microbiomes of multiple genetic mod...
The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases... RH Walker...
Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with ...
For instance: Is HD pathology directly caused by progressive accumulation of mutated huntingtin (HTT) protein over time or by the ageing cell not being able to cope with the mutant protein? Can we reverse HD pathology by turning off the mutated gene? If so, when is the critical point of ...
(phosphorylation) of the huntingtin protein, which as its name suggests, was first identified through research into Huntington's disease. By looking at huntingtin expression, the researchers found that lead exposure, even in small amounts, is likely to impede or reverse the train by altering ...