Third Annual Queen Anne's Run
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You are not alone because we are all family
The KDA's mission is to inform, support, educate,
fund research, and find a cure for Kennedy's Disease
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Spinal Bulbar Muscular Atrophy
Current Kennedy's Disease Research
September 08, 2014 - Highlights: We characterized stem cells and motor neuron derivatives from patients with SBMA. Variation in the repeat expansion mutation was observed in the cultured cells. Reduced HDAC6 levels were found in the derived motor neurons. Motor neurons from 2 patients with long repeats had increased acetylated α-tubulin.
May 08, 2014 - Highlights: AR-targeted antisense oligonucleotides suppressed gene expression in mice. Subcutaneous delivery suppressed AR gene expression in the periphery but not the CNS. Subcutaneous administration rescued disease in two mouse models of SBMA. Peripherally expressed polyQ AR contributes to disease and is a therapeutic target
, X-linked Spinal Bulbar Muscular
Atrophy, SBMA, neuromuscular disease, support group