[HTML][HTML] Identification of plant-derived alkaloids with therapeutic potential for myotonic dystrophy type I
R Herrendorff, MT Faleschini, A Stiefvater… - Journal of Biological …, 2016 - ASBMB
Myotonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal
treatment available. This disease is caused by expanded CTG trinucleotide repeats in the
3′ UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded
(CUG) n repeats form hairpin structures that sequester splicing factors such as muscleblind-
like 1 (MBNL1). Lack of available MBNL1 leads to misregulated alternative splicing of many
target pre-mRNAs, leading to the multisystemic symptoms in DM1. Many studies aiming to …
treatment available. This disease is caused by expanded CTG trinucleotide repeats in the
3′ UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded
(CUG) n repeats form hairpin structures that sequester splicing factors such as muscleblind-
like 1 (MBNL1). Lack of available MBNL1 leads to misregulated alternative splicing of many
target pre-mRNAs, leading to the multisystemic symptoms in DM1. Many studies aiming to …