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YAP1 gene fusions have been observed in a subset of paediatric ependymomas. Here we show that, ectopic expression of active nuclear YAP1 (nlsYAP5SA) in ventricular zone neural progenitor cells using conditionally-induced NEX/NeuroD6-Cre is sufficient to drive brain tumour formation in mice. Neuron...
ORGANISM(S): Mus musculus (Mouse) 
2020-05-26 | PXD018131 | Pride
Recent genetic evidence implicates the serine/threonine kinase cyclin G-associated kinase (GAK) as a Parkinson’s disease risk. However, its role in neuronal function and many downstream effectors remain unclear. Employing a chemical genetics method, we show here that the sodium potassium pump (Na+...
ORGANISM(S): Mus musculus (Mouse) 
2019-01-07 | PXD011319 | Pride
Loss-of-function mutations in CDKL5 kinase causes severe neurodevelopmental delay and early-onset seizures. Identification of CDKL5 substrates is key to understanding its function. Using chemical genetics, we found that CDKL5 phosphorylates three microtubule-associated proteins: MAP1S, EB2 and ARHGE...
ORGANISM(S): Mus musculus (Mouse) 
2018-09-18 | PXD010511 | Pride
Autophagy is essential for neuronal development and its deregulation contributes to neurodegenerative diseases. NDR1 and NDR2 are highly conserved kinases implicated in neuronal development, mitochondrial health and autophagy, but how they affect mammalian brain development in vivo is not known. Usi...
ORGANISM(S): Mus musculus (Mouse) 
2022-11-21 | PXD035566 | Pride
Developmental and epileptic encephalopathies (DEEs) are a group of rare childhood disorders characterized by severe epilepsy and cognitive deficits. Numerous DEE genes have been discovered thanks to advances in genomic diagnosis, yet putative molecular links between these disorders are unknown. CDKL...
ORGANISM(S): Mus musculus (Mouse) 
2023-12-13 | PXD038505 | Pride
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