CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2

• Main Authors: Javier Poyatos-García (Author), Águeda Blázquez-Bernal (Author), Marta Selva-Giménez (Author), Ariadna Bargiela (Author), Jorge Espinosa-Espinosa (Author), Rafael P. Vázquez-Manrique (Author), Anne Bigot (Author), Ruben Artero (Author), Juan Jesús Vilchez (Author)
• Format: Book
• Published: Elsevier, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

A single-nucleotide deletion in the stop codon of the nuclear import receptor transportin-3 (TNPO3), also involved in human immunodeficiency virus type 1 (HIV-1) infection, causes the ultrarare autosomal dominant disease limb-girdle muscular dystrophy D2 (LGMDD2) by extending the wild-type protein....