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Identification of compounds that modulate ataxin-3 aggregation and neurological dysfunction in a C. elegans model of Machado-Joseph disease.(Research Grant Award)(Report)(Brief article)
September 22, 2011... Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is caused by mutations in the protein ataxin-3 that make this protein prone to aggregate and toxic to specific groups of neurons. This leads to the progressive neurodegeneration and to the typical symptoms of MJD: ataxia...
Molecular function of senataxin protein, defective in ataxia oculomotor apraxia type 2 (AOA2), in regulation of human gene expression.(Research Grant Award)(Report)
September 22, 2011... Ataxia oculomotor apraxia type 2 is a neurodegenerative inherited disorder characterised by degeneration in the brain and spinal cord, causing progressive muscle weakness and finally atrophy. The gene mutated in this highly disabling disease encodes a protein called senataxin. Since the...
Cerebrospinal fluid biomarkers in spinocerebellar ataxia.(Research Grant Award)(Report)
September 22, 2011... Although genetic advances in ataxia worldwide have been impressive, and will eventually lead to targeted therapies for ataxias, we have had comparatively less success in preparing to be able to measure the success of a potential treatment in terms of arresting or slowing the progression of...
Modulation of autophagy as a novel therapeutic strategy for Machado-Joseph disease.(Research Grant Award)(Report)
September 22, 2011... In our project we found that an important mechanism used by cells to eliminate their unwanted molecules and structures--autophagy, was "blocked" in Machado-Joseph disease (MJD) due to a lack of a protein called beclin-1. When we restored beclin-1 levels, autophagy was re-established and the...
Unite with NAF in our commitment to Ataxia Research.
September 22, 2011... The National Ataxia Foundation has begun its annual Ataxia Research Drive to raise funds for our ataxia research programs. Over time, these programs have led to important ataxia findings such as new ataxia genes, promising therapeutic interventions, and better disease understanding. The...