Claire Ellen Shamber on Muck Rack

Claire Ellen Shamber

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AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegeneration

|
By Maria Carla Carisi, Martha Bishop, Madison Sangster, Claire Ellen Shamber
| biorxiv.org
Abstract Beta-propeller protein-associated neurodegeneration (BPAN) is an ultra-rare, X-linked dominant, neurodegenerative disease caused by loss-of-function mutations in the WDR45 gene. It manifests in neurodevelopmental delay and seizures followed by secondary neurologic decline with dystonia/parkinsonism and dementia in adolescence and early adulthood and is characterized by progressive accumulation of iron in the basal ganglia.
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