![]() ![]() The goal of our studies is to carry out translational research by investigating molecular mechanisms that underlie pathogenesis in HD and more recently ALS (amyotrophic lateral sclerosis), FTLD (frontotemporal lobar degeneration) and XDP (X-linked dystonia parkinsonism), with the goal of slowing or stopping progression by identifying and validating molecular pathways in a number of model systems and within specific cell populations in the brain. The laboratory also focuses on understanding casual mechanisms that underlie Amyotrophic Lateral Sclerosis and more recently, X-linked Dystonia-Parkinsonism. The mutation disrupts many cellular processes, including transcriptional regulation, vesicular trafficking, mitochondrial function, autophagic clearance, and protein modification, among others. The primary cause of HD is the expansion of a CAG triplet repeat encoding a polyglutamine (polyQ) tract within the amino terminal portion of the Huntingtin (Htt) protein. HD is an autosomal dominant neurodegenerative disease characterized by specific regions of neuronal dysfunction and loss, most notably of neurons in the striatum and cortex. HD was one of the first neurodegenerative diseases for which a genetic cause was determined, and has served as a paradigm for researchers to study other such diseases. ![]() The Thompson laboratory has been actively engaged in investigating the fundamental molecular and cellular events that underlie how the mutant Huntington’s disease gene causes degeneration of specific brain cell populations to induce motor and cognitive decline and premature death of patients with the ultimate goal to develop new therapeutic approaches.
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