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Article

Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.

The Journal of biological chemistry - 15 Jan 2010

Baraibar Martin A, Muhoberac Barry B, Garringer Holly J, Hurley Thomas D, Vidal Ruben

Abstract excerpt

Mutations in the coding sequence of the ferritin light chain (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy, which is characterized by the presence of intracellular inclusion bodies containing the mutant FTL polypeptide and by abnormal accum...

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Identifiers

PMID: 19923220
DOI: 10.1074/jbc.M109.042986
PMCID: PMC2804353

Genes

FTL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19923220-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.PMID 19923220Read ↗

Iron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration.Semantic proximity Read ↗

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Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.Semantic proximity Read ↗

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Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation.Semantic proximity Read ↗

Structural Analysis of Variants of the Ferritin Light Chain Protein and Its Relationship with Neuroferritinopathy.Semantic proximity Read ↗

Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy.Semantic proximity Read ↗

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative StressSemantic proximity Read ↗

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathySemantic proximity Read ↗

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overloadSemantic proximity Read ↗

Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.Semantic proximity Read ↗

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