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Article

Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.

The Journal of biological chemistry - 16 Apr 2010

Luscieti Sara, Santambrogio Paolo, Langlois d'Estaintot Béatrice, Granier Thierry, Cozzi Anna, Poli Maura, Gallois Bernard, Finazzi Dario, Cattaneo Angela, Levi Sonia, Arosio Paolo

Abstract excerpt

Nucleotide insertions that modify the C terminus of ferritin light chain (FTL) cause neurodegenerative movement disorders named neuroferritinopathies, which are inherited with dominant transmission. The disorders are characterized by abnormal brain iron accumulation. Here we describe the biochemi...

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Identifiers

PMID: 20159981
DOI: 10.1074/jbc.M109.096404
PMCID: PMC2852932

Genes

FTL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20159981-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.PMID 20159981Read ↗

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