In a mouse model of spinocerebellar ataxia type 1 (SCA1), mice carrying mutant Pumilio1 genes develop progressive motor deficits and cerebellar degeneration. Studies conducted by the Zoghbi lab and colleagues have revealed, as shown in these images, dramatic differences in the arborization of Purkinje cells (neurons located in the cerebellar cortex of the brain) when comparing wild type (left), Pum1 +/- (middle) and Pum1 -/- (right) mice. (The images show immunofluorescence confocal microscopy in 3D depth-coding, 63X).
Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. She is also an investigator at the Howard Hughes Medical Institute and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.