Huda Zoghbi
Huda Zoghbi
Huda Y. Zoghbi is a Lebanese-born physician and medical researcher. She is a professor in the departments of Pediatrics, Molecular and Human Genetics, and Neurology and Neuroscience at Baylor College of Medicine, the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, and an investigator of the Howard Hughes Medical Institute. Her work has elucidated mechanisms of Rett syndrome and spinocerebellar ataxias...
beyond clearly clues concluded disease expansion tract
We had been accumulating clues that the glutamine tract expansion is clearly what is important for disease because that's the mutation. But we also concluded that there was something else beyond the glutamine that's really mediating the toxicity of the protein.
clearance expansion interfered known meaning normal tract within
We had known that the expansion of the glutamine tract within Ataxin-1 probably interfered with normal clearance of Ataxin-1, meaning that it accumulated in cells.
activity aspects causes domain enhancing expansion outside overall pathology picture
The overall picture we have now is that glutamine expansion causes some aspects of the pathology of SCA1 in part by enhancing the activity of the domain that is outside the glutamine repeat.