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Can I read The Notch signaling pathway in skeletal muscle health and disease on EtoBox?
The Notch signaling pathway in skeletal muscle health and disease by Dorianmarie Vargas‐Franco; Raghav Kalra; Isabelle Draper; Christina A. Pacak; Atsushi Asakura; Peter B. Kang is a Medicine article available to read on EtoBox.
What is The Notch signaling pathway in skeletal muscle health and disease about?
## Abstract The Notch signaling pathway is a key regulator of skeletal muscle development and regeneration. Over the past decade, the discoveries of three new muscle disease genes have added a new dimension to the relationship between the Notch signaling pathway and skeletal muscle: __MEGF10__, __POGLUT1__, and __JAG2__. We review the clinical syndromes associated with pathogenic variants in each of these genes, known molecular and cellular functions of their protein products with a particular focus on the Notch signaling pathway, and potential novel therapeutic targets that may emerge from further investigations of these diseases. The phenotypes associated with two of these genes, __POGLUT1__ and __JAG2__, clearly fall within the realm of muscular dystrophy, whereas the third, __MEGF10__, is associated with a congenital myopathy/muscular dystrophy overlap syndrome classically known as early‐onset myopathy, areflexia, respiratory distress, and dysphagia. JAG2 is a canonical Notch ligand, POGLUT1 glycosylates the extracellular domain of Notch receptors, and MEGF10 interacts with the intracellular domain of NOTCH1. Additional genes and their encoded proteins relevant to muscle functi
Who reads The Notch signaling pathway in skeletal muscle health and disease?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Dorianmarie Vargas‐Franco; Raghav Kalra; Isabelle Draper; Christina A. Pacak; Atsushi Asakura; Peter B. Kang
- Publisher
- Wiley
- Published
- 2022
- Language
- EN
- Field
- Medicine (Health Sciences)