Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA

Mutations in the components of the minor spliceosome underlie several human diseases. A subset of patients with isolated growth hormone deficiency (IGHD) harbors mutations in the RNPC3 gene, which encodes the minor spliceosome-specific U11/U12-65K protein. Although a previous study showed that IGHD...

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Detalhes bibliográficos
Publicado no:RNA
Main Authors: Norppa, Antto J., Kauppala, Tuuli M., Heikkinen, Harri A., Verma, Bhupendra, Iwaï, Hideo, Frilander, Mikko J.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5824358/
https://ncbi.nlm.nih.gov/pubmed/29255062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1261/rna.062844.117
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