w_Enfermedad deMcArdle

McArdle disease: Small GTPases and intracellular signaling


Department (s)
Genetics, Physical Anthropology, Animal Physiology

Knowledge area
Biomedicine, Molecular and  Cellular Biology and Genetics

PI: José Luis Zugaza Gurruchaga Co-PI:


Alazne Arrazola Sastre, Miriam Luque Montoro, María Isabel Hernández Cortés


Small GTPases, signaling, glycogen, glycogen phosphorylase, post-translational modifications (PTMs), cell migration, McArdle disease.


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.

Research lines

  1. Involvement of myophosphorylase in cell migration.
  2. Control of myophosphors on PTMs in proteins related to the extracellular matrix
  3. Models of McArdle's disease in iPSC-derived differentiated cells.


  • Leica TCS STED CW SP8 super resolution microscope,
  • biphotonic microscope (Femto-2D),
  • BD Facs Jazz cell sorter,
  • one Seahorse XFe96 analyzer,
  • Quanterix SIMOA HD single molecule screening platform

Website link