Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Nature Genetics

Volumn 28, Issue 4, 2001, Pages 350-354

  Curtis, Andrew R J ^a   Fey, Constanze ^a   Morris, Christopher M ^b   Bindoff, Laurence A ^c   Ince, Paul G ^b   Chinnery, Patrick F ^c   Coulthard, Alan ^c   Jackson, Margaret J ^c   Jackson, Andrew P ^d   McHale, Duncan P ^d   Hay, David ^a   Barker, William A ^a   Markham, Alex F ^d   Bates, David ^c   Curtis, Ann ^a   Burn, John ^e  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON;

ARTICLE; BRAIN SCINTISCANNING; CLINICAL ARTICLE; EXTRAPYRAMIDAL SYNDROME; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; PATHOGENESIS; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; BASAL GANGLIA DISEASES; BASE SEQUENCE; BRAIN; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; FEMALE; FERRITINS; FOUNDER EFFECT; GENES, DOMINANT; GLOBUS PALLIDUS; HUMANS; IRON; LINKAGE (GENETICS); LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN SUBUNITS; SEQUENCE HOMOLOGY, AMINO ACID; TERMINOLOGY;

EID: 0034941118     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng571     Document Type: Article

References (23)

1. The ferritins: Molecular properties, iron storage function and cellular regulation
2. Altered brain metabolism of iron as a cause of neurodegenerative diseases?
3. Alterations in levels of iron, ferritin, and other trace metals in neurodegenerative diseases affecting the basal ganglia
4. Iron, metalloenzymes and cytotoxic reactions
5. An integrated metric physical map of human chromosome 19
6. Relative positions of two clusters of human alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p (FUT6-FUT3-FUT5) within the microsatellite genetic map of chromosome 19
7. Comparison of the three-dimensional structures of recombinant human H and horse L ferritins at high resolution
8. Cloning of the gene coding for human L apoferritin
9. Human ferritin H and L sequences lie on ten different chromosomes
10. Human ferritin genes: Chromosomal assignments and polymorphisms
11. The diagnostic value of serum ferritin determinations for assessing iron status
12. Histochemical distribution of non-haem iron in the human brain
13. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
14. Genetic disorders affecting proteins of iron metabolism: Clinical implications
15. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
16. Mutational analysis of loading of iron into rat liver ferritin by ceruloplasmin
17. Human frataxin maintains mitochondrial iron homeostasis in saccharomyces cerevisiae
18. Huntingtin: An iron-regulated protein essential for normal nuclear and perinuclear organelles
19. Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice
20. Cooperativity of mutational effects within a six amino acid residues substitution that induces a major conformational change in human H ferritin
21. Metals and free radicals in neurodegeneration
22. A comprehensive genetic map of the human genome based on 5,264 microsatellites
23. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination