Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.
Ohno K, Rahman MA, Nazim M, Nasrin F, Lin Y, Takeda JI, Masuda A.
Ohno K, et al.
J Neurochem. 2017 Aug;142 Suppl 2:64-72. doi: 10.1111/jnc.13954. Epub 2017 Mar 21.
J Neurochem. 2017.
PMID: 28072465
Free article.
Review.
In addition, germline mutations provoke aberrant splicing by compromising binding of RNA-binding proteins, and cause congenital myasthenic syndromes (CMS). We present physiological splicing mechanisms of genes for agrin (AGRN), acetylcholinesterase (ACHE), Mu …
In addition, germline mutations provoke aberrant splicing by compromising binding of RNA-binding proteins, and cause congenital my …