Article
FTD-associated mutations in Tau result in a combination of dominant and recessive phenotypes.
Neurobiology of disease - 1 Aug 2022
Law Alexander D, Cassar Marlène, Long Dani M, Chow Eileen S, Giebultowicz Jadwiga M, Venkataramanan Anjana, Strauss Roland, Kretzschmar Doris
Abstract excerpt
Although mutations in the microtubules-associated protein Tau have long been connected with several neurodegenerative diseases, the underlying molecular mechanisms causing these tauopathies are still not fully understood. Studies in various models suggested that dominant gain-of-function effects underlie the pathogenicity of these mutants; however, there is also evidence that the loss of normal physiological...
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