Literature DB >> 19252769

Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.

Satoshi Kono, Akiko Otsuji, Hiroaki Hattori, Kentaro Shirakawa, Hitoshi Suzuki, Hiroaki Miyajima.   

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Year:  2009        PMID: 19252769     DOI: 10.1007/s00415-009-5075-9

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  11 in total

1.  Measurement of human plasma phospholipid transfer protein by sandwich ELISA.

Authors:  T Oka; T Kujiraoka; M Ito; M Nagano; M Ishihara; T Iwasaki; T Egashira; N E Miller; H Hattori
Journal:  Clin Chem       Date:  2000-09       Impact factor: 8.327

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

Authors:  T Yokota; T Shiojiri; T Gotoda; H Arai
Journal:  N Engl J Med       Date:  1996-12-05       Impact factor: 91.245

3.  Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.

Authors:  T Yokota; T Shiojiri; T Gotoda; M Arita; H Arai; T Ohga; T Kanda; J Suzuki; T Imai; H Matsumoto; S Harino; M Kiyosawa; H Mizusawa; K Inoue
Journal:  Ann Neurol       Date:  1997-06       Impact factor: 10.422

4.  Uptake of lipoprotein-associated alpha-tocopherol by primary porcine brain capillary endothelial cells.

Authors:  D Goti; A Hammer; H J Galla; E Malle; W Sattler
Journal:  J Neurochem       Date:  2000-04       Impact factor: 5.372

5.  Structure and phospholipid transfer activity of human PLTP: analysis by molecular modeling and site-directed mutagenesis.

Authors:  J Huuskonen; G Wohlfahrt; M Jauhiainen; C Ehnholm; O Teleman; V M Olkkonen
Journal:  J Lipid Res       Date:  1999-06       Impact factor: 5.922

Review 6.  The impact of phospholipid transfer protein (PLTP) on HDL metabolism.

Authors:  J Huuskonen; V M Olkkonen; M Jauhiainen; C Ehnholm
Journal:  Atherosclerosis       Date:  2001-04       Impact factor: 5.162

7.  Phospholipid transfer protein deficiency impairs apolipoprotein-B secretion from hepatocytes by stimulating a proteolytic pathway through a relative deficiency of vitamin E and an increase in intracellular oxidants.

Authors:  Xian-Cheng Jiang; Zhiqiang Li; Ruijie Liu; Xiao Ping Yang; Meihui Pan; Laurent Lagrost; Edward A Fisher; Kevin Jon Williams
Journal:  J Biol Chem       Date:  2005-02-25       Impact factor: 5.157

Review 8.  Absorption, transport, and tissue delivery of vitamin E.

Authors:  Attilio Rigotti
Journal:  Mol Aspects Med       Date:  2007-01-11

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

Authors:  K Ouahchi; M Arita; H Kayden; F Hentati; M Ben Hamida; R Sokol; H Arai; K Inoue; J L Mandel; M Koenig
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

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

Authors:  T Gotoda; M Arita; H Arai; K Inoue; T Yokota; Y Fukuo; Y Yazaki; N Yamada
Journal:  N Engl J Med       Date:  1995-11-16       Impact factor: 91.245

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  2 in total

Review 1.  Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism.

Authors:  John J Albers; Simona Vuletic; Marian C Cheung
Journal:  Biochim Biophys Acta       Date:  2011-06-28

2.  Clinical and genetic study of ataxia with vitamin E deficiency: A case report.

Authors:  Lin-Wei Zhang; Bing Liu; Dan-Tao Peng
Journal:  World J Clin Cases       Date:  2022-08-16       Impact factor: 1.534

  2 in total

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