Article
Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.
Brain : a journal of neurology - 7 Jan 2025
Marchica Valentina, Biasetti Luca, Barnard Jodi, Li Shujing, Nikolaou Nikolas, Frosch Matthew P, Lucente Diane E, Eldaief Mark, King Andrew, Fanto Manolis, Troakes Claire, Houart Corinne, Smith Bradley N
Abstract excerpt
Annexin A11 mutations are a rare cause of amyotrophic lateral sclerosis (ALS), wherein replicated protein variants P36R, G38R, D40G and D40Y are located in a small helix within the long, disordered N-terminus. To elucidate disease mechanisms, we characterized the phenotypes induced by a genetic loss-of-function and by misexpression of G38R and D40G in vivo. Loss of Annexin A11 results in a low-penetrant...
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