Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells

• Main Authors: Florent Porquet (Author), Lin Weidong (Author), Kévin Jehasse (Author), Hélène Gazon (Author), Maria Kondili (Author), Silvia Blacher (Author), Laurent Massotte (Author), Emmannuel Di Valentin (Author), Denis Furling (Author), Nicolas Albert Gillet (Author), Arnaud François Klein (Author), Vincent Seutin (Author), Luc Willems (Author)
• Format: Book
• Published: Elsevier, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Myotonic dystrophy type 1 (DM1) is a neuromuscular disease that originates from an expansion of CTG microsatellites in the 3' untranslated region of the DMPK gene, thus leading to the expression of transcripts containing expanded CUG repeats (CUGexp). The pathophysiology is explained by a toxic...