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Journées Inaugurales du Centre de Recherche en Neurosciences de Lyon (CRNL)
C5-Mutations in U4atac small nuclear RNA: from splicing to brain malformations (3905) - Mardi 25 septembre 2012 15:40 - 16:00

C5-Mutations in U4atac small nuclear RNA: from splicing to brain malformations

The spliceosome is a ribonucleoprotein complex containing small nuclear (sn) RNAs, which catalyzes RNA splicing through intron excision and exon ligation to produce mature mRNAs, templates for protein translation. No mutations in human snRNAs have been described in humans, or linked to diseases. We identified four point mutations in the U4atac snRNA component of the minor spliceosome in patients with severe brain malformations and unexplained postnatal death (Taybi- Linder syndrome, TALS or microcephalic osteodysplastic primordial dwarfism type 1, MOPD1, MIM 210710). Minor intron splicing and expression of a subgroup of genes, possibly linked to the disease phenotype, were affected in cell lines derived from TALS patients. Our findings demonstrate the crucial role of minor spliceosome component, U4atac snRNA, in human brain development and postnatal survival.

Patrick EDERY, CRNL/Tiger

Sciences du Vivant Communication

Toutes les vidéos de l'évenement Journées Inaugurales du Centre de Recherche en Neurosciences de Lyon (CRNL) (20 videos)

00:28:00.03

2012-09-25

10:45 - 11:45 : Ouverture du colloque

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2012-09-25

11:45 - 12:15 : Brain against brain: presentation of a new brain computer interfa...

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2012-09-25

14:30 - 15:00 : C2-Multiple level interactions between neurodegeneration and neur...

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2012-09-25

15:00 - 15:20 : C3-Serotonin receptors and neurodegenerative processes. A Focus o...

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2012-09-25

15:20 - 15:40 : c4-VEGF in neuronal development and synaptic plasticity

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2012-09-25

15:40 - 16:00 : C5-Mutations in U4atac small nuclear RNA: from splicing to brain ...

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2012-09-25

16:30 - 17:00 : c6-Homeostatic regulation of neural activity across the sleep- wa...

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17:00 - 17:30 : c7-The neural correlates of conscious awareness revealed by the s...

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17:30 - 17:50 : c8-Cognition markers in altered states of consciousness

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17:50 - 18:10 : C9-The multiple faces of wakefulness, histaminergic and orexinerg...

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18:10 - 18:30 : c10-Mechanisms responsible for Paradoxical (REM) sleep genesis: w...

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2012-09-26

09:30 - 10:00 : c12-How temporal expectations change perception

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2012-09-26

10:20 - 10:40 : c14-High-frequency neural activity and human cognition: insights ...

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10:40 - 11:00 : c15-Neuroimagery of olfactory perception and memory in humans

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2012-09-26

11:00 - 11:20 : c16-Language, music, complex sounds: What to expect?-And when

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2012-09-26

13:30 - 14:00 : c17-How to induce neuroplastic alterations non-invasively

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14:00 - 14:30 : c18-Brain Computer Interfaces (BCI) in paralysis and psychologica...

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14:50 - 15:10 : c20-Pain relief with transcranial magnetic stimulation: what are ...

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2012-09-26

15:10 - 15:25 : c21-Brain plasticity sustained by environmental enrichment: hopes...

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2012-09-26

15:25 - 15:30 : Clôture

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