PTBP1 acts as a dominant repressor of the aberrant tissue‐specific splicing of ISCU in hereditary myopathy with lactic acidosis

BACKGROUND: Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intron mutation in the iron‐sulfur cluster assembly (ISCU) gene. The mutation results in aberrant splicing, where part of the intron is retained in the final mRNA transcript, giving rise to a tr...

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Detalles Bibliográficos
Autores principales: Rawcliffe, Denise F. R., Österman, Lennart, Nordin, Angelica, Holmberg, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305642/
https://www.ncbi.nlm.nih.gov/pubmed/30209894
http://dx.doi.org/10.1002/mgg3.413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305642/
https://www.ncbi.nlm.nih.gov/pubmed/30209894
http://dx.doi.org/10.1002/mgg3.413

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