Publications by authors named "R Bernardoni"
Pathological mutations in the gene are the major genetic cause of Parkinson's disease (PD). Although several animal models with either LRRK2 down- or over-expression have been developed, the physiological function of LRRK2 remains elusive. is constitutively expressed in various tissues including neurons and glial cells, but importantly, it is expressed at low levels in dopaminergic neurons, further contributing to the cryptic function of .
View Article and Find Full Text PDFPathological mutations in leucine-rich repeat kinase 2 (LRRK2) gene are the major genetic cause of Parkinson's disease (PD). Multiple lines of evidence link LRRK2 to the control of vesicle dynamics through phosphorylation of a subset of RAB proteins. However, the molecular mechanisms underlying these processes are not fully elucidated.
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- Gaucher Disease (GD) is the most common lysosomal disorder, caused by mutations in the GBA1 gene, leading to a wide range of symptoms from mild to severe neurological issues.
- Research using Drosophila models and human-derived neuronal cells shows that GD affects growth and leads to increased cell death and decreased cell division.
- The study finds that targeting the Hippo signaling pathway may help rescue growth defects in neuronal cells, presenting a potential therapeutic strategy for treating neuronopathic GD.
The oncoprotein BCR-ABL1 triggers chronic myeloid leukemia. It is clear that the disease relies on constitutive BCR-ABL1 kinase activity, but not all the interactors and regulators of the oncoprotein are known. We describe and validate a leukemia model based on inducible human BCR-ABL1 expression controlled by tissue-specific promoters.
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