Chorein detection for the diagnosis of Chorea-acanthocytosis

Annals of Neurology

Volumn 56, Issue 2, 2004, Pages 299-302

  Dobson Stone, Carol ^a   Velayos Baeza, Antonio ^a   Filippone, Lea A ^b   Westbury, Sarah ^c   Storch, Alexander ^d   Erdmann, Torsten ^e   Wroe, Stephen J ^f   Leenders, Klaus L ^g   Lang, Anthony E ^h   Dotti, Maria Teresa ⁱ   Federico, Antonio ⁱ   Mohiddin, Saidi A ^j   Fananapazir, Lameh ^j   Daniels, Geoff ^k   Danek, Adrian ^l   Monaco, Anthony P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b Department of Obstetrics Gynecology   (United States)

^c ST JOHN S COLLEGE   (United Kingdom)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e Department of Neurology   (Germany)

^f IPSWICH HOSPITAL   (United Kingdom)

^g UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ UNIVERSITY OF SIENA   (Italy)

^j NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^k NHS BLOOD AND TRANSPLANT   (United Kingdom)

^l LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

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Author keywords

[No Author keywords available]

Indexed keywords

ANTISERUM; CHOREIN; DNA; GENE PRODUCT; PROTEIN ANTIBODY; UNCLASSIFIED DRUG;

ACANTHOCYTOSIS; ARTICLE; CHOREA; CHOREA ACANTHOCYTOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERTRANSLUCENT LUNG; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; VPS13A GENE;

ACANTHOCYTES; ADRENOLEUKODYSTROPHY; BLOTTING, WESTERN; CELL LINE; CHOREATIC DISORDERS; DNA MUTATIONAL ANALYSIS; ERYTHROCYTE MEMBRANE; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MUTATION; PROTEINS; VESICULAR TRANSPORT PROTEINS;

EID: 3843080710     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20200     Document Type: Article

References (14)

1. Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002;80: 475-491
2. Feinberg TE, Cianci CD, Morrow JS, et al. Diagnostic tests for choreoacanthocytosis. Neurology 1991;41:1000-1006.
3. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001;50:755-764.
4. Rampoldi L, Dobson-Stone C, Rubio JP, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001;28:119-120.
5. Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001;28:121-122.
6. Velayos-Baeza A, Vettori A, Copley RR, et al. Analysis of the human VPS13 gene family. Genomics (in press).
7. Dobson-Stone C, Danek A, Rampoldi L, et al. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 2002;10:773-781.
8. Rubio JP, Danek A, Stone C, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997; 61:899-908.
9. Frangioni JV, Neel BG. Solubilization and purification of enzymatically active glutathione S-transferase (pGEX) fusion proteins. Anal Biochem 1993;210:179-187.
10. Ausubel FM, Brent R, Kingston RE, et al, eds. Current protocols in molecular biology. Vol 2. New York: Wiley, 1997.
11. Dodge JT, Mitchell C, Hanahan DJ. The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes. Arch Biochem Biophys 1963;100:119-130.
12. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999;96:307-310.
13. Ho M, Chelly J, Carter N, et al. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 1994;77:869-880.
14. Matchesi VT. The cytoskeletal system of red blood cells. Hosp Pract 1985;20:113-118, 120, 125-131.