Linked Life Data

15737889

Source:http://linkedlifedata.com/resource/pubmed/id/15737889

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-3-1
pubmed:abstractText
Neuroferritinopathy is a dominantly inherited movement disorder characterized by deposition of iron and ferritin in the brain, normal or low serum ferritin levels, and highly variable clinical features. The disease, also named dominant adult-onset basal ganglia disease, is associated with a nucleotide insertion that modifies the last 22 amino acids of the ferritin L-chain. A similar dominant movement disorder in a French family was associated with a nucleotide insertion that modifies the last nine amino acids of the same molecule. Both disorders show ferritin and iron precipitates in the basal ganglia of the brain. Here we present the structural aspects of the two mutations, as well studies on cellular models aimed at understanding the molecular basis of the disorder. The results indicate that the mutations affect protein folding and stability, and that the expression of one of the two variant ferritins increases intracellular iron availability and sensitivity to oxidative damage.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1521-6926
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
265-76
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation.
pubmed:affiliation
Department of Biological and Technological Research, IRCCS H. San Raffaele, Via Olgettina 58, Milano, 20132 Italy. levi.sonia@hsr.it
pubmed:publicationType
Journal Article, Review