Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

• Published in: bioRxiv
• Main Authors: Schmitt, Rebecca E, Smith, Douglas Y, Cho, Dong Seong, Kirkeby, Lindsey A, Resch, Zachary T, Liewluck, Teerin, Niu, Zhiyv, Milone, Margherita, Doles, Jason D
• Format: Paper
• Language: English
• Published: Cold Spring Harbor Cold Spring Harbor Laboratory Press 04.01.2021
• Subjects: Autophagy; Bioinformatics; Epimerase; Etiology; Fibroblasts; Kinases; Myogenesis; Myopathy; N-Acetylglucosamine; Phagocytosis; Pluripotency; Signal transduction; Skeletal muscle; Stem cells; Transcription; Vacuoles

ABSTRACT Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive distal myopathy with rimmed vacuoles that typically manifests in late adolescence/early adulthood. GNE enc...