Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia

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 CM(1,2). The most common disease-causing mutation (DOK7(1124_1127 dup)) truncates DOK7 and leads to th...

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Pubblicato in:Nature
Autori principali: Oury, Julien, Zhang, Wei, Leloup, Nadia, Koide, Akiko, Corrado, Alexis D., Ketavarapu, Gayatri, Hattori, Takamitsu, Koide, Shohei, Burden, Steven J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8277574/
https://ncbi.nlm.nih.gov/pubmed/34163073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-021-03672-3
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