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Topic: mdx52 mice

ePoster
1 ePoster

In Neuroscience

Localisation and interactome analysis of dystrophin isoforms in the mouse brain

Konstantina Tetorou, Arta Aghaeipour, Talia Gileadi, Pablo Perdomo Quinteiro, Liwen Zhang, Pietro Spitali, Jennifer Elizabeth Morgan, Federica Montanaro, Francesco Muntoni · FENS Forum 2024

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease caused by mutations in the dystrophin gene, resulting in muscle degeneration and a shortened life expectancy. DMD patients have a higher prevalence of intellectual disability, anxiety, and autism spectrum disorder than the general population. The presence of at least seven alternative promoters, two polyA addition sites and multiple alternative splicing results in several dystrophin isoforms with different expression patterns and roles. Mutations affecting only the full-length isoforms (Dp427) are linked to emotional behaviour

ePoster · Neuroscience