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Forschungsdatenbank PMU-SQQUID

Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.
Couillard-Despres, S; Uyanik, G; Ploetz, S; Karl, C; Koch, H; Winkler, J; Aigner, L;
Neurogenetics. 2004; 5(2): 83-93.
Originalarbeiten (Zeitschrift)

PMU-Autor/inn/en

Aigner Ludwig
Couillard-Després Sébastien

Abstract

Mutations in doublecortin ( DCX) affect the migration of neuronal precursor cells and cause subcortical band heterotopia and lissencephaly. DCX is known to bind and bundle microtubules; however, the impact of mutation on DCX function and its relation to the manifestation of DCX-associated disorders is still unclear. We analyzed the impact of DCX mutants on COS7 cell microtubule networks. We found that both mutant and wild type DCX are able to bind and bundle microtubules; however, mutants possess a decreased ability to perturb the mitotic machinery, to cause abnormal spindle orientation, and to impair mitotic progression. The magnitude of this decrease is proportional to the severity of the mutation-associated clinical symptoms, thereby providing a cell-based assay for the prognosis of DCX-associated neuronal migration disorders.


Useful keywords (using NLM MeSH Indexing)

Animals

COS Cells

Cell Movement

Cerebral Cortex/abnormalities*

Cerebral Cortex/pathology*

Female

Humans

Magnetic Resonance Imaging

Male

Microtubule-Associated Proteins/genetics*

Microtubule-Associated Proteins/metabolism

Microtubules/metabolism

Mitosis/genetics*

Neurons/metabolism

Neurons/pathology

Neuropeptides/genetics*

Neuropeptides/metabolism

Pedigree

Phenotype


Find related publications in this database (Keywords)

neuronal migration
neurogenesis
neuronal precursor cells
cell division
double cortex syndrome