Articles with "tbk1 haploinsufficiency" as a keyword



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TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers

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Published in 2021 at "Journal of Neurology"

DOI: 10.1007/s00415-021-10887-x

Abstract: Frontotemporal dementia (FTD) is a neurodegenerative disease, resulting in progressive problems in language and/or behaviour and is often diagnosed before 65 years of age. Ubiquitin positive protein aggregates in the brain are among the key… read more here.

Keywords: mutation carriers; k63 ubiquitination; brain; tbk1 haploinsufficiency ... See more keywords