Publications by authors named "Mario Rodriguez-Martin"

Article Synopsis
  • * Recent studies focus on molecular profiling of RASopathies beyond just gene mutations, exploring mRNAs, non-coding RNAs, protein patterns, and metabolic signatures important for better understanding and treatment.
  • * The review highlights the importance of both molecular and physiological biomarkers for RASopathies, advocating for future research that emphasizes thorough validation and clinical application of these biomarkers.
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RASopathies, a group of neurodevelopmental congenital disorders stemming from mutations in the RAS/MAPK pathway, present a unique opportunity to delve into the intricacies of complex neurological disorders. Afflicting approximately one in a thousand newborns, RASopathies manifest as abnormalities across multiple organ systems, with a pronounced impact on the central and peripheral nervous system. In the pursuit of understanding RASopathies' neurobiology and establishing phenotype-genotype relationships, in vivo non-mammalian models have emerged as indispensable tools.

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Neurofibromin controls many cell processes, such as growth, learning, and memory. If neurofibromin is not working properly, it can lead to health problems, including issues with the nervous, skeletal, and cardiovascular systems and cancer. This review examines neurofibromin's binding partners, signaling pathways and potential therapeutic targets.

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