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Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

Archive ouverte | Moulay, Gilles | CCSD

International audience. Clathrin function directly derives from its coat structure, and while endocytosis is mediated by clathrin-coated pits, large plaques contribute to cell adhesion. Here, we show that the altern...

Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy

Archive ouverte | Cohen, Enzo | CCSD

Communication Orale. International audience

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

Archive ouverte | Cohen, Enzo | CCSD

International audience

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