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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Archive ouverte | Willim, Jana | CCSD

International audience. Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7 , is the only LAP pro...

Brain malformations and seizures by impaired chaperonin function of TRiC

Archive ouverte | Kraft, Florian | CCSD

International audience. Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core ...

Mutation of a single residue promotes gating of vertebrate and invertebrate two-pore domain potassium channels

Archive ouverte | Ben Soussia, Ismail | CCSD

International audience. Mutations that modulate the activity of ion channels are essential tools to understand the biophysical determinants that control their gating. Here, we reveal the conserved role played by a s...

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