John D. Lueck
johndlucky.bsky.social
John D. Lueck
@johndlucky.bsky.social
Associate Professor at the University of Rochester School of Medicine and Dentistry. Doing research from soup to nuts.
Excited for our new study that demonstrates myotonia aggravates the myopathy in a mouse model for myotonic dystrophy type 1. Supporting the idea that treatment of myotonia alone could benefit muscle in people with DM1. #myotonicdystrophy #musclephysiology

www.biorxiv.org/content/10.1...
Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy
A cardinal sign of myotonic dystrophy type 1 (DM1) is slow of muscle relaxation after voluntary contraction known as myotonia. Myotonia results from mis-regulated splicing of chloride channel 1 (ClC-1...
www.biorxiv.org
September 22, 2025 at 2:15 AM
We are excited about our collaborative study published in NAR, “ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis”. A first of a couple studies demonstrating the potential of ACE-tRNAs as a platform therapeutic. url: academic.oup.com/nar/article/...
ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis
Abstract. Nonsense mutations arise from single nucleotide substitutions that result in premature termination codons (PTCs). PTCs result in little to no ful
academic.oup.com
July 15, 2025 at 3:23 AM