Human α-tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency

Annals of Neurology

Volumn 39, Issue 3, 1996, Pages 295-300

  Hentati, Afif ^a   Deng, Han Xiang ^a   Hung, Wu Yen ^a   Nayer, Muhammad ^a   Said Ahmed, M ^a   He, Xiaoxuan ^a   Tim, Richard ^a   Stumpf, David A ^a   Siddique, Teepu ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN;

ALPHA TOCOPHEROL DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE MUTATION; GENE STRUCTURE; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; INTRON; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; STOP CODON;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 8; CLONING, MOLECULAR; CODON, TERMINATOR; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; HETEROZYGOTE DETECTION; HUMANS; IN SITU HYBRIDIZATION; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RNA, TRANSFER, ARG; VITAMIN E; VITAMIN E DEFICIENCY;

EID: 0029936866     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390305     Document Type: Article

References (12)

1. Harding AE, Matthew S, Jones S, et al. Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med 1985;313:32-35
2. Stumpf DA, Sokol R, Bettis D, et al. Friedreich ataxia: V. Variant form with vitamin E deficiency and normal fat absorption. Neurology 1987;37:68-74
3. Traber MG, Sokol RJ, Burton GW, et al. Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoprotein secreted by liver. J Clin Invest 1990;85:397-407
4. Sokol RJ. Vitamin E and neurological function in man. Free Radic Biol Med 1989;6:189-207
5. Sato Y, Aral H, Miyata A, et al. Primary structure of α-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein. J Biol Chem 1993;268:17705-17710
6. Ben Hamida C, Doerflunge N, Belal S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nature Genet 1993;5:195-200
7. Ouahchi K, Arita M, Kayden H, et al. Ataxia with vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nature Genet 1995;9:141-145
8. Deng HX, Yoshiura K, Durks RW, et al. Chromosome band specific painting: chromosome in situ suppression hybridization using PCR product from a microdissected chromosome band as a probe pool Hum Genet 1992;89:13-17
9. Deng HX, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defect in Cu,Zn Superoxide dismutase. Science 1993;261:1047-1051
10. Arita M, Sato Y, Miyata A, et al. Human α-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. Biochem J 1995;306:437-443
11. Sokol RJ, Kayden HJ, Bettis DB, et al. Isolated vitamin E deficiency in the absence of fat malabsorption - familial and sporadic cases: characterization and investigation of cause. J Lab Clin Med 1988;111:548-559
12. Krendel AK, Gilchrist JM, Johnson AO, Bossen EH. Isolated deficiency of vitamin E with progressive neurologic deterioration. Neurology 1987;37:538-540