Article
Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
Nature - 1 Jul 2021
Oury Julien, Zhang Wei, Leloup Nadia, Koide Akiko, Corrado Alexis D, Ketavarapu Gayatri, Hattori Takamitsu, Koide Shohei, Burden Steven J
Abstract excerpt
Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in DOK7, an adaptor protein that is crucial for forming and maintaining neuromuscular synapses, are a major cause of CM1,2. The most common disease-causing mutation (DOK71124_1127 dup) truncates DOK7 and leads to the loss of two tyrosine residues that are phosphorylated and recruit CRK proteins, which are important for anchoring...
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