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Fig. 7 | Orphanet Journal of Rare Diseases

Fig. 7

From: Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

Fig. 7

Model of DUX4 regulation by β-2 adrenergic signalling. β-2AR binding of agonists induces G protein-mediated activation of adenylyl cyclase, which subsequently catalyzes the formation of cAMP. Downstream effectors of cAMP are PKA-dependent and PKA-independent pathways. β-2 agonist-mediated inhibition effects on DUX4 expression are likely mediated through PKA-independent pathways acting through signalling molecules such as phosphatases (PPtases) and MAPKs to effect chromatin modifiers, e.g. lysine methyltransferases (KMTases), to influence transcription of the DUX4 gene [140]

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172