Serum transferrin receptor levels in Friedreich's and other degenerative ataxias

Neurology

Volumn 57, Issue 1, 2001, Pages 159-160

  Scarano, V ^a   De Cristofaro, T ^a   De Michele, G ^a   Salvatore, E ^a   De Biase, I ^a   Monticelli, A ^a   Filla, Alessandro ^a   Cocozza, S ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FRATAXIN; IRON; MITOCHONDRIAL DNA; TRANSFERRIN; TRANSFERRIN RECEPTOR;

ADULT; ALLELE; ARTICLE; ATAXIA; BLOOD LEVEL; CELLULAR DISTRIBUTION; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; HUMAN; IRON OVERLOAD; IRON TRANSPORT; MALE; MITOCHONDRION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0035838321     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.1.159     Document Type: Article

References (7)

1. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
2. Studies of human mouse and yeast homologues indicate a mitochondrial function for frataxin
3. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homologue of frataxin
4. Molecular pathogenesis of Friedreich ataxia
5. Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia
6. Increased serum transferrin receptor concentrations in Friedreich's ataxia
7. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia