A5066924781- Congenital heart defects research
- Neurogenesis and neuroplasticity mechanisms
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Developmental Biology and Gene Regulation
- Hippo pathway signaling and YAP/TAZ
- Fibroblast Growth Factor Research
- Dietary Effects on Health
- Circadian rhythm and melatonin
- Wnt/β-catenin signaling in development and cancer
- Hedgehog Signaling Pathway Studies
- Connective tissue disorders research
- Tissue Engineering and Regenerative Medicine
- Cleft Lip and Palate Research
- Kruppel-like factors research
- Neonatal and fetal brain pathology
- Epigenetics and DNA Methylation
- Pluripotent Stem Cells Research
- Fetal and Pediatric Neurological Disorders
- Microtubule and mitosis dynamics
- Craniofacial Disorders and Treatments
- Pancreatic function and diabetes
- Nerve injury and regeneration
Institute of Molecular Biotechnology
2022-2023
Austrian Academy of Sciences
2022-2023
King's College London
2015-2019
STMicroelectronics (United Kingdom)
2019
Guy's Hospital
2017
Consejo Superior de Investigaciones Científicas
2010-2012
Instituto de Neurociencias
2012
Universitat de Miguel Hernández d'Elx
2009-2010
Truncating CHD8 mutations are amongst the highest confidence risk factors for autism spectrum disorder (ASD) identified to date. Here, we report that Chd8 heterozygous mice display increased brain size, motor delay, hypertelorism, pronounced hypoactivity, and anomalous responses social stimuli. Whereas gene expression in neocortex is only mildly affected at midgestation, over 600 genes differentially expressed early postnatal neocortex. Genes involved cell adhesion axon guidance particularly...
Abstract The proneural factor Ascl1 controls multiple steps of neurogenesis in the embryonic brain, including progenitor division and neuronal migration. Here we show that Cenpj , also known as CPAP a microcephaly gene, is transcriptional target cerebral cortex. We have characterized role during cortical development by utero electroporation knockdown found silencing ventricular zone disrupts centrosome biogenesis randomizes cleavage plane orientation radial glia progenitors. Moreover,...
Abstract Skeletal shape varies widely across species as adaptation to specialized modes of feeding and locomotion, but how skeletal is established unknown. An example extreme diversity in the a structure can be seen sternum, which considerably species. Here we show that Dchs1–Fat4 planar cell polarity pathway controls orientation early condensation define relative dimensions mouse sternum. These changes fit model intercalation along differential activity drives simultaneous narrowing,...
ABSTRACT In human, mutations of the protocadherins FAT4 and DCHS1 result in Van Maldergem syndrome, which is characterised, part, by craniofacial abnormalities. Here, we analyse role Dchs1-Fat4 signalling during osteoblast differentiation mouse. We show that Fat4 Dchs1 mutants mimic phenotype human syndrome essential for differentiation. Dchs1/Fat4 mutants, proliferation osteoprogenitors increased delayed. loss linked to Yap-Tead activity Yap expressed required osteoprogenitors. contrast,...
The protocadherins Fat4 and Dchs1 act as a receptor-ligand pair to regulate many developmental processes in mice humans, including development of the vertebrae. Based on conservation function between Drosophila mammals, Fat4-Dchs1 signalling has been proposed planar cell polarity (PCP) activity Hippo effectors Yap Taz, which proliferation, survival differentiation. There is strong evidence for Fat regulation PCP mammals but link with pathway unclear. In Fat4−/− Dchs1−/− mice, vertebrae are...
Abstract Background Nolz1 is a zinc finger transcription factor whose expression enriched in the lateral ganglionic eminence (LGE), although its function still unknown. Results Here we analyze role of during LGE development. We show that high proliferating neural progenitor cells (NPCs) subventricular zone. In addition, low levels are detected mantle zone, as well adult striatum. Similarly, highly expressed LGE-derived NPC cultures, but rapidly decrease upon cell differentiation, pointing to...
Early brain patterning depends on proper arrangement of positional information. This information is given by gradients secreted signaling molecules (morphogens) detected individual cells within the responding tissue, leading to specific fate decisions. Here we report that morphogen FGF8 exerts initially a differential signal activity along E9.5 mouse neural tube. We demonstrate this polarizing codes RAS-regulated ERK1/2 and topographical location secondary organizers: isthmic organizer (IsO)...
Intermittent fasting (IF) is a promising strategy to counteract ageing shown increase the number of adult-born neurons in dentate gyrus mice. However, it unclear which steps adult neurogenesis process are regulated by IF. The neural stem cells (NSCs) decreases with age an activation-dependent manner and, this loss, NSCs found quiescent state ensures their long-term maintenance. We aimed determine if and how IF affects hippocampus. To identify effects every-other-day on all following...
ABSTRACT Truncating CHD8 mutations are amongst the highest confidence risk factors for autism spectrum disorders (ASD) identified to date. Here, we report that Chd8 heterozygous mice display increased brain size, motor delay, hypertelorism, pronounced hypoactivity and anomalous responses social stimuli. Whereas gene expression in neocortex is only mildly affected at mid-gestation, over 600 genes differentially expressed early postnatal neocortex. Genes involved cell adhesion axon guidance...
Abstract Intermittent fasting (IF) is a promising non-pharmacological strategy to counteract ageing which has been shown increase the number of adult-born neurons in dentate gyrus mice. However, it still unclear steps adult neurogenesis process are regulated by IF. The neural stem cells (NSCs) decreases with age an activation-dependent manner. To loss cell pool, NSCs mostly found inactive, quiescent state ensures their long-term maintenance. We aimed determine if and how IF impacts activity...