Résultat de recherche

Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.

Floriane PETIT, Michael Dussiot, Olivier Hermine, Arnold Munnich, Agnès Rötig

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Lucas FARES-TAIE, Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet, Isabelle Perrault

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Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.

Hortense de Calbiac, Solene RENAULT, Grégoire Haouy, Maria-Letizia Campanari, Anca Marian, Chiara Guerrera, Sorana CIURA, Edor Kabashi

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Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

Giulia Barcia, Edor Kabashi, Rima NABBOUT, Sorana CIURA, Thomas Blauwblomme

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