Article
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Human molecular genetics - 20 Apr 2023
Zhang Shaochuan, Ohkawara Bisei, Ito Mikako, Huang Zhizhou, Zhao Fei, Nakata Tomohiko, Takeuchi Tomoya, Sakurai Hidetoshi, Komaki Hirofumi, Kamon Masayoshi, Araki Toshiyuki, Ohno Kinji
Abstract excerpt
At the neuromuscular junction, the downstream of tyrosine kinase 7 (DOK7) enhances the phosphorylation of muscle-specific kinase (MuSK) and induces clustering of acetylcholine receptors (AChRs). We identified a patient with congenital myasthenic syndrome (CMS) with two heteroallelic mutations in DOK7, c.653-1G>C in intron 5 and c.190G>A predicting p.G64R in the pleckstrin homology domain. iPS cells established...
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