Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.

doi:10.1016/j.jhep.2010.04.039

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.

Journal of hepatology - 1 Dec 2010

Finkenstedt Armin, Wolf Elisabeth, Höfner Elmar, Gasser Bethina Isasi, Bösch Sylvia, Bakry Rania, Creus Marc, Kremser Christian, Schocke Michael, Theurl Milan, Moser Patrizia, Schranz Melanie, Bonn Guenther, Poewe Werner, Vogel Wolfgang, Janecke Andreas R, Zoller Heinz

Abstract excerpt

BACKGROUND & AIMS: Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus. Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin. RESULTS: A novel homozygous...

Topics

Antimicrobial Cationic Peptides
Benzoates
Brain
Ceruloplasmin
Consanguinity
Deferasirox
Female
Hepcidins
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iron

Iron Chelating Agents

Iron Metabolism Disorders

Liver

Male

Middle Aged

Mutation

Neurodegenerative Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 20801540
DOI: 10.1016/j.jhep.2010.04.039
PMCID: PMC2987498

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.