Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation - Drecourt, Anthony; Babdor, Joël; Dussiot, Michael; Petit, Floriane; Goudin, Nicolas; Garfa-Traoré, Meriem; Habarou, Florence; Bole-Feysot, Christine; Nitschké, Patrick; Ottolenghi, Chris; Metodiev, Metodi D.; Serre, Valérie; et al. (American journal of human genetics, 2018)
Keywords: Amino Acid Sequence; artesunate; Brain - pathology; Carrier Proteins - genetics; Endocytosis; Fibroblasts - metabolism; HEK293 Cells; HeLa Cells; Homeostasis; Humans; Iron - metabolism; iron overload; Lipoylation; mitochondria; Mutation - genetics; NBIA; Nerve Degeneration - metabolism; Nerve Degeneration - pathology; neurodegeneration with brain iron accumulation; palmitoylation; Receptors, Transferrin - chemistry; Receptors, Transferrin - genetics; Receptors, Transferrin - metabolism; Transferrin - metabolism; transferrin receptor; iron overload; neurodegeneration with brain iron accumulation; artesunate; mitochondria; NBIA; transferrin receptor; palmitoylation