McArdle disease: Small GTPases and intracellular signaling
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| PI: José Luis Zugaza Gurruchaga | Co-PI: | |
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Members Alazne Arrazola Sastre, Miriam Luque Montoro, María Isabel Hernández Cortés |
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Keywords Small GTPases, signaling, glycogen, glycogen phosphorylase, post-translational modifications (PTMs), cell migration, McArdle disease. |
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Description Our research is ficused on studying the role of the small GTPases of the Rho family in the Glycogen catabolism both in health and in disease. We have discovered that the expression of the muscle isoform of glycogen phosphorylase (myophosphorolisa) is not exclusive to skeletal muscle, in T lymphocytes it controls both the migration and the proliferation of these cells. This discovery has changed the paradigm of the canonical function of the myophosphorylase, to lead to a novel investigation on the relevance of this enzyme in McArdle disease. In fact, certain comorbidities described in some patients with the disease could be explained due to the lack of function of this enzyme in the affected tissues, such as thyroid, retina and glia. Investigating and characterizing the signalosome controlled by myophosphorylase will provide the molecular basis to correct the deficiencies caused by the defect in enzyme activity. |
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Website link https://www.achucarro.org/es/research/group/laboratory-of-gtpases-and-neurosignalling |
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