Publications by authors named "Jon Fitzpatrick"
Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder caused by expansion of CAG repeats in the huntingtin gene. Tissue transglutaminase 2 (TG2), a multi-functional enzyme, was found to be increased both in HD patients and in mouse models of the disease. Furthermore, beneficial effects have been reported from the genetic ablation of TG2 in R6/2 and R6/1 mouse lines.
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- Huntington's disease (HD) is a hereditary neurodegenerative disorder with motor, cognitive, and psychiatric symptoms, caused by an expansion of CAG repeats in the huntingtin gene.
- Researchers have developed the zQ175 knock-in mouse model, which has a higher CAG repeat length than previous models, leading to more pronounced symptoms and earlier onset of behavioral deficits.
- The study found that both heterozygous and homozygous zQ175 mice showed significant motor and cognitive impairments, weight loss, and reduced survival, indicating the model's potential for studying HD progression and therapeutic approaches.
Huntington's disease (HD) is caused by a mutation in the huntingtin (htt) gene encoding an expansion of glutamine repeats at the N terminus of the Htt protein. Proteolysis of Htt has been identified as a critical pathological event in HD models. In particular, it has been postulated that proteolysis of Htt at the putative caspase-6 cleavage site (at amino acid Asp-586) plays a critical role in disease progression and pathogenesis.
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