Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency.

Bromley D, Anderson PC, Daggett V.

Biochemistry. 2013 Jun 18;52(24):4264-73. doi: 10.1021/bi4001084. Epub 2013 Jun 10.

2.

Molecular determinants of heritable vitamin E deficiency.

Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D.

Biochemistry. 2004 Apr 13;43(14):4143-9.

PMID:
15065857
3.

The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.

Meier R, Tomizaki T, Schulze-Briese C, Baumann U, Stocker A.

J Mol Biol. 2003 Aug 15;331(3):725-34.

PMID:
12899840
4.

Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.

Qian J, Atkinson J, Manor D.

Biochemistry. 2006 Jul 11;45(27):8236-42.

PMID:
16819822
5.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M.

Nat Genet. 1995 Feb;9(2):141-5.

PMID:
7719340
6.

Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency.

Min KC, Kovall RA, Hendrickson WA.

Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14713-8. Epub 2003 Dec 1.

7.

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M, Martínez-Rubio D, Lupo V, Pérez-Colosía V, Piñán-López E, Palau F, Espinós C.

Pediatr Res. 2008 Sep;64(3):262-4. doi: 10.1203/PDR.0b013e31817d9bf7.

PMID:
18458655
8.

Impaired α-TTP-PIPs interaction underlies familial vitamin E deficiency.

Kono N, Ohto U, Hiramatsu T, Urabe M, Uchida Y, Satow Y, Arai H.

Science. 2013 May 31;340(6136):1106-10. doi: 10.1126/science.1233508. Epub 2013 Apr 18.

9.

Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.

Hoshino M, Masuda N, Ito Y, Murata M, Goto J, Sakurai M, Kanazawa I.

Ann Neurol. 1999 Jun;45(6):809-12.

PMID:
10360777
10.

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.

Am J Hum Genet. 1998 Feb;62(2):301-10.

11.

Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.

Iwasa K, Shima K, Komai K, Nishida Y, Yokota T, Yamada M.

J Neurol Sci. 2014 Oct 15;345(1-2):228-30. doi: 10.1016/j.jns.2014.07.001. Epub 2014 Jul 9.

PMID:
25066259
12.

Vitamin E trafficking.

Traber MG, Burton GW, Hamilton RL.

Ann N Y Acad Sci. 2004 Dec;1031:1-12. Review.

PMID:
15753129
13.

Ataxia with vitamin E deficiency: update of molecular diagnosis.

Di Donato I, Bianchi S, Federico A.

Neurol Sci. 2010 Aug;31(4):511-5. doi: 10.1007/s10072-010-0261-1. Epub 2010 May 13. Review.

PMID:
20464573
14.

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N.

N Engl J Med. 1995 Nov 16;333(20):1313-8.

15.

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, Hübner C, Finckh B.

J Pediatr. 1999 Feb;134(2):240-4.

PMID:
9931538
16.

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Benomar A, Yahyaoui M, Meggouh F, Bouhouche A, Boutchich M, Bouslam N, Zaim A, Schmitt M, Belaidi H, Ouazzani R, Chkili T, Koenig M.

J Neurol Sci. 2002 Jun 15;198(1-2):25-9.

PMID:
12039660
17.

Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Yokota T, Shiojiri T, Gotoda T, Arai H.

N Engl J Med. 1996 Dec 5;335(23):1770-1. No abstract available.

18.

Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress.

Yokota T, Igarashi K, Uchihara T, Jishage K, Tomita H, Inaba A, Li Y, Arita M, Suzuki H, Mizusawa H, Arai H.

Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15185-90.

19.
20.

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.

Usuki F, Maruyama K.

J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):254-6.

Supplemental Content

Support Center