A5057144695- Retinal Development and Disorders
- Genetics and Neurodevelopmental Disorders
- Glaucoma and retinal disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Neuroscience and Neuropharmacology Research
- PI3K/AKT/mTOR signaling in cancer
- Genomic variations and chromosomal abnormalities
- Microtubule and mitosis dynamics
- Tuberous Sclerosis Complex Research
- Photoreceptor and optogenetics research
- Congenital heart defects research
- Medical and Biological Sciences
- RNA modifications and cancer
- Mast cells and histamine
- Immunodeficiency and Autoimmune Disorders
Erasmus University Rotterdam
2021-2023
Erasmus MC
2021-2023
Rockefeller University
2022
The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block impaired immune responses as cause hypogammaglobulinemia. mice displayed behavioral deficits all domains. model showed aberrant cerebellar foliation severely sensorimotor learning....
Delay eyeblink conditioning has been extensively used to study associative learning and the cerebellar circuits underlying this task have largely identified. However, there is a little knowledge on how factors such as strain, sex innate behaviour influence performance during type of learning. In study, we male female mice C57BL/6J (B6) B6CBAF1 strains investigate effect sex, strain locomotion in delay conditioning. We performed short long paradigm c-Fos immunostaining approach explore...
Tuberous sclerosis complex 1 (TSC1) is a tumor suppressor that promotes the inhibition of mechanistic target rapamycin (mTOR) pathway, and mutations in TSC1 lead to rare disorder same name. Despite phenotype heterogeneity, up 50% TSC patients present with autism spectrum (ASD). Consequently, models are often used probe molecular behavioral mechanisms ASD development. Amongst different brain areas proposed play role development ASD, cerebellum commonly reported be altered, cerebellar-specific...
Abstract The functional and molecular sources of behavioral variability in mice are not fully understood. As a consequence, the predominant use male has become standard animal research, under assumption that males less variable than females. Similarly, to homogenize genetic background, neuroscience studies have almost exclusively used C57BL/6 (B6) strain. Here, we examined individual differences performance context associative learning. We performed delayed eyeblink conditioning while...
Abstract Tuberous sclerosis complex 1 ( TSC1 ) is a tumour suppressor gene that inhibits the mechanistic target of rapamycin (mTOR) pathway. Mutations in lead to rare disorder same name, which up 50% patients present with autism spectrum (ASD). ASD highly prevalent, early-onset neurodevelopmental disorder, characterized by social deficits and repetitive behaviours, although type severity symptoms show wide variability across individuals. Amongst different brain areas proposed play role...