A5102942013- Cancer Immunotherapy and Biomarkers
- Ubiquitin and proteasome pathways
- Genetics and Neurodevelopmental Disorders
- Cancer Research and Treatments
- Immunotherapy and Immune Responses
- RNA Research and Splicing
- Congenital heart defects research
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
Université Paris Cité
2024
Inserm
2024
Sorbonne Université
2023
Laboratoire de Microbiologie et Génétique Moléculaires
2023
Institut des Maladies Génétiques Imagine
2022
Abstract Gephyrin ( GPHN ) regulates the clustering of postsynaptic components at inhibitory synapses and is involved in pathophysiology neuropsychiatric disorders. Here, we uncover an extensive diversity transcripts that are tightly controlled by splicing during mouse human brain development. Proteomic analysis reveals least a hundred isoforms incorporated Glycine gamma-aminobutyric acid A receptors containing synapses. They exhibit different localization properties, altering expression...
The most common form of facioscapulohumeral dystrophy (FSHD1) is caused by a partial loss the D4Z4 macrosatellite repeat array in subtelomeric region chromosome 4. Patients with FSHD1 typically carry 1 to 10 repeats, whereas nonaffected individuals have 11 150 repeats. ~150-kilobyte 10q exhibits ~99% sequence identity 4q, including array. Nevertheless, contractions chr10 do not cause FSHD or any known disease, as people on flanked nonfunctional polyadenylation signal, permitting DUX4...