SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome

The catalytic subunits of acetylcholinesterase (AChE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ. Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified in a pati...

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Detalles Bibliográficos
Autores principales: Rahman, Mohammad Alinoor, Azuma, Yoshiteru, Nasrin, Farhana, Takeda, Jun-ichi, Nazim, Mohammad, Ahsan, Khalid Bin, Masuda, Akio, Engel, Andrew G., Ohno, Kinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539547/
https://www.ncbi.nlm.nih.gov/pubmed/26282582
http://dx.doi.org/10.1038/srep13208

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