Search Results - "Chughtai, Uroosa"

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset by McAllister, Branduff, Donaldson, Jasmine, Binda, Caroline S., Powell, Sophie, Chughtai, Uroosa, Edwards, Gareth, Stone, Joseph, Lobanov, Sergey, Elliston, Linda, Schuhmacher, Laura-Nadine, Rees, Elliott, Menzies, Georgina, Ciosi, Marc, Maxwell, Alastair, Chao, Michael J., Hong, Eun Pyo, Lucente, Diane, Wheeler, Vanessa, Lee, Jong-Min, MacDonald, Marcy E., Long, Jeffrey D., Aylward, Elizabeth H., Landwehrmeyer, G. Bernhard, Rosser, Anne E., Paulsen, Jane S., Williams, Nigel M., Gusella, James F., Monckton, Darren G., Allen, Nicholas D., Holmans, Peter, Jones, Lesley, Massey, Thomas H.

“…The age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome…”
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Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson’s disease GBA-N370S dopamine neurons by Bogetofte, Helle, Ryan, Brent J., Jensen, Pia, Schmidt, Sissel I., Vergoossen, Dana L.E., Barnkob, Mike B., Kiani, Lisa N., Chughtai, Uroosa, Heon-Roberts, Rachel, Caiazza, Maria Claudia, McGuinness, William, Márquez-Gómez, Ricardo, Vowles, Jane, Bunn, Fiona S., Brandes, Janine, Kilfeather, Peter, Connor, Jack P., Fernandes, Hugo J.R., Caffrey, Tara M., Meyer, Morten, Cowley, Sally A., Larsen, Martin R., Wade-Martins, Richard

“…Variants at the GBA locus, encoding glucocerebrosidase, are the strongest common genetic risk factor for Parkinson’s disease (PD). To understand GBA-related…”
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Rare genetic modifiers of Huntington’s disease reveal novel pathological mechanisms by Massey, Tom, McAllister, Branduff, Binda, Caroline, Donaldson, Jasmine, Chughtai, Uroosa, Holmans, Peter, Jones, Lesley

“…Huntington’s disease (HD) is a progressive, untreatable neurodegenerative disorder that presents with a variable array of motor, psychiatric, cognitive and…”
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