Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

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 s...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2018
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985451/
https://ncbi.nlm.nih.gov/pubmed/29395073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.01.003
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