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2 Results Found

  • Review
  • Open Access

Integrated Stress Response (ISR) Modulators in Vascular Diseases

  • Alexander Kalinin,
  • Ekaterina Zubkova,
  • Irina Beloglazova,
  • Yelena Parfyonova and
  • Mikhail Menshikov

19 December 2025

Vascular dysfunction lies at the core of cardiovascular diseases—the leading cause of global morbidity and mortality. Despite their prevalence, therapeutic options remain limited, in part due to an incomplete understanding of the molecular mech...

  • Article
  • Open Access
44 Citations
11,890 Views
13 Pages

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

  • Alessandro Mussa,
  • Diana Carli,
  • Elisa Giorgio,
  • Anna Maria Villar,
  • Simona Cardaropoli,
  • Caterina Carbonara,
  • Maria Francesca Campagnoli,
  • Paolo Galletto,
  • Martina Palumbo and
  • Simone Olivieri
  • + 7 authors

21 December 2021

The RAF1:p.Ser257Leu variant is associated with severe Noonan syndrome (NS), progressive hypertrophic cardiomyopathy (HCM), and pulmonary hypertension. Trametinib, a MEK-inhibitor approved for treatment of RAS/MAPK-mutated cancers, is an emerging tre...