Primary microcephaly is caused by mutations in genes encoding centrosomal proteins including WDR62 and KIF2A. However, mechanisms underlying human microcephaly remain elusive. By creating mutant mice and human cerebral organoids, here we found that WDR62 deletion resulted in a reduction in the size of mouse brains and organoids due to the disruption of neural progenitor cells (NPCs), including outer radial glia (oRG). WDR62 ablation led to retarded cilium disassembly, long cilium, and delayed cell cycle progression leading to decreased proliferation and premature differentiation of NPCs. Mechanistically, WDR62 interacts with and promotes CEP170's localization to the basal body of primary cilium, where CEP170 recruits microtubule-depolymerizing factor KIF2A to disassemble cilium. WDR62 depletion reduced KIF2A's basal body localization, and enhanced KIF2A expression partially rescued deficits in cilium length and NPC proliferation. Thus, modeling microcephaly with cerebral organoids and mice reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly, disruption of which contributes to microcephaly.
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http://dx.doi.org/10.1038/s41467-019-10497-2 | DOI Listing |
Lab Invest
January 2025
Université de Caen Normandie, INSERM U1086 ANTICIPE, Caen, France; UNICANCER, Comprehensive Cancer Center François Baclesse, Caen, France; Université de Caen Normandie, US PLATON- ORGAPRED core facility, Caen, France; Université de Caen Normandie, US PLATON, UNICANCER, Comprehensive Cancer Center François Baclesse- Biological Resource Center 'OvaRessources', Caen, France. Electronic address:
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View Article and Find Full Text PDFInt J Mol Sci
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Instituto Universitario de Investigaciones Biomédicas y Sanitarias (IUIBS), Universidad Las Palmas de Gran Canaria (ULPGC), Paseo Blas Cabrera Felipe "Físico" 17, 35016 Las Palmas de Gran Canaria, Spain.
In vitro models play a pivotal role in advancing our understanding of neurodegenerative diseases (NDs) such as Parkinson's and Alzheimer's disease (PD and AD). Traditionally, 2D cell cultures have been instrumental in elucidating the cellular mechanisms underlying these diseases. Cultured cells derived from patients or animal models provide valuable insights into the pathological processes at the cellular level.
View Article and Find Full Text PDFBiomolecules
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Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany.
Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents-also through exemplary case studies-the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes.
View Article and Find Full Text PDFClin Exp Metastasis
January 2025
Department of Biomedicine, University of Bergen, Jonas Lies Vei 91, Bergen, 5009, Norway.
The blood-brain barrier and the distinct brain immunology provide challenges in translating commonly used chemotherapeutics to treat intracranial tumors. Previous reports suggest anti-tumoral effects of antipsychotics, encouraging investigations into potential treatment effects of neuroleptics on brain metastases. For the first time, the therapeutic potential of the antipsychotic drug clozapine in treating melanoma brain metastases (MBM) was investigated using three human MBM cell lines.
View Article and Find Full Text PDFNeuron
January 2025
Department of Pathology and Krantz Family Center for Cancer Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. Electronic address:
Writing in Neuron, Zhang et al. identify a subpopulation of glioblastoma cells from patient tumor samples with progenitor-like features that expresses the potassium ion channel KCND2. In mouse and organoid models, these cells enhance neural activity at the glioma-neural interface.
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