Publications by authors named "Maria Roa Oyaga"
Delay eyeblink conditioning has been extensively used to study associative learning and the cerebellar circuits underlying this task have been largely identified. However, there is a little knowledge on how factors such as strain, sex and innate behaviour influence performance during this type of learning. In this study, we used male and female mice of C57BL/6J (B6) and B6CBAF1 strains to investigate the effect of sex, strain and locomotion in delay eyeblink conditioning.
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- A patient with both hypogammaglobulinemia (low antibody levels) and autism spectrum disorder (ASD) was found to have biallelic mutations in the PAX5 gene, which is a vital transcription factor.
- Research using a mouse model with these PAX5 mutations showed important developmental issues including blocked B cell development, immune response problems, and various ASD-related behavioral deficits.
- The study also identified PAX5's critical role in brain development, particularly in the cerebellum and midbrain, linking genetic mutations to both immunological deficiencies and neurodevelopmental disorders.
Tuberous sclerosis complex 1 (TSC1) is a tumor suppressor that promotes the inhibition of mechanistic target of rapamycin (mTOR) pathway, and mutations in lead to a rare complex disorder of the same name. Despite phenotype heterogeneity, up to 50% of TSC patients present with autism spectrum disorder (ASD). Consequently, TSC models are often used to probe molecular and behavioral mechanisms of ASD development.
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