Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche

• Main Authors: Jose L. Ortiz-Vitali (Author), Jianbo Wu (Author), Nasa Xu (Author), Annie W. Shieh (Author), Nima Niknejad (Author), Megumi Takeuchi (Author), Carmen Paradas (Author), Chunru Lin (Author), Hamed Jafar-Nejad (Author), Robert S. Haltiwanger (Author), Sidney H. Wang (Author), Radbod Darabi (Author)
• Format: Book
• Published: Elsevier, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Autosomal recessive limb-girdle muscular dystrophy 21 (LGMDR21) is caused by pathogenic variants in protein O-glucosyltransferase 1 (POGLUT1), which is responsible for O-glucosylation of specific epidermal growth factor (EGF) repeats found in ∼50 mammalian proteins, including Notch receptors. Previo...