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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

Archive ouverte | Diaz, Jorge | CCSD

Corrigendum PMID: 33438001 DOI: 10.1093/brain/awaa449. International audience. Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with ...

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Archive ouverte | Emerit, Michel-Boris | CCSD

International audience. The 5-HT 3 receptors are serotonin-gated ion channels that physically couple with purinergic P2X2 receptors to trigger a functional cross-inhibition leading to reciprocal channel occlusion. A...

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Archive ouverte | Bogaert, Elke | CCSD

International audience. SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both co...

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