Article
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
American journal of human genetics - 1 Feb 2018
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, Desguerre Isabelle, Boddaert Nathalie, Hermine Olivier, Munnich Arnold, Rötig Agnès
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous condition characterized by progressive dystonia with iron accumulation in the basal ganglia. How NBIA-associated mutations trigger iron overload remains poorly understood. After studying fibroblast cell lines from subjects carrying both known and unreported biallelic mutations in CRAT and REPS1, we ascribe iron overload to the...
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